3490 (A > G)

General info

Chr
chrM
Start
3490
End
3490
Ref
A
Alt
G
Mitimpact ID
MI.11141
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
184
AA pos
62
AA ref
K
AA alt
E
Codon substitution
Aaa/Gaa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
0.451339 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Medium impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
High impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3490 (A > C)

General info

Chr
chrM
Start
3490
End
3490
Ref
A
Alt
C
Mitimpact ID
MI.11142
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
184
AA pos
62
AA ref
K
AA alt
Q
Codon substitution
Aaa/Caa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
0.451339 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Tolerated Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Neutral Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3491 (A > C)

General info

Chr
chrM
Start
3491
End
3491
Ref
A
Alt
C
Mitimpact ID
MI.11143
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
185
AA pos
62
AA ref
K
AA alt
T
Codon substitution
aAa/aCa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
0.218937 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Deleterious Score and details of the predictor
Mutation Assessor
Neutral impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Neutral Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

3491 (A > T)

General info

Chr
chrM
Start
3491
End
3491
Ref
A
Alt
T
Mitimpact ID
MI.11144
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
185
AA pos
62
AA ref
K
AA alt
M
Codon substitution
aAa/aTa
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
0.218937 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Vus- Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Neutral Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Neutral Score and details of the meta-predictor
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

General info

Chr
chrM
Start
3492
End
3492
Ref
A
Alt
T
Mitimpact ID
MI.11145
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
186
AA pos
62
AA ref
K
AA alt
N
Codon substitution
aaA/aaT
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-5.8235 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
Gnomad31 filter
.
Gnomad31 AC hom
.
Gnomad31 AC het
.
Gnomad31 AF hom
.
Gnomad31 AF het
.
Gnomad31 AN
.
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.

General info

Chr
chrM
Start
3492
End
3492
Ref
A
Alt
C
Mitimpact ID
MI.11146
Gene symbol
MT-ND1
RC complex
I
Ensembl gene ID
Ensembl protein ID
Ensembl transcript ID
Uniprot name
Uniprot ID
Ncbi gene ID
Ncbi protein ID
Gene position
186
AA pos
62
AA ref
K
AA alt
N
Codon substitution
aaA/aaC
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-5.8235 Conservation Score
PhastCons 100v
0 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
FatHmm
Neutral Score and details of the predictor
FatHMMW
Neutral Score and details of the predictor
PROVEAN
Neutral Score and details of the predictor
Mutation Assessor
Low impact Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
VEST
Neutral Score and details of the predictor
PANTHER
Neutral Score and details of the predictor
PhD-SNP
Disease Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
CADD
Deleterious Score and details of the predictor
SNAP
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Likely-benign Score and details of the meta-predictor
CAROL
Neutral Score and details of the meta-predictor
Condel
Deleterious Score and details of the meta-predictor
COVEC WMV
Neutral Score and details of the meta-predictor
Meta SNP
Disease Score and details of the meta-predictor
MtoolBox
Neutral Score and details of the meta-predictor
DEOGEN2
Neutral Score and details of the meta-predictor

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Medium impact Score and details of the cancer-specific predictor
MutationAssessor transf
Medium impact Score and details of the cancer-specific predictor
CHASM
Neutral Score and details of the cancer-specific predictor

Databases of Phenotypes

ClinVar July2022 CLNSIG
.
ClinVar July2022 CLNDN
.
ClinVar July2022 Variation ID
ClinVar July2022 CLNDISDB
.
MITOMAP Allele
.
MITOMAP Disease Het/Hom
.
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease GenBank Freq
.
MITOMAP Disease GenBank Seqs
.
MITOMAP Disease GenBank Curated refs
.
MITOMAP General GenBank Freq
0.00002
MITOMAP General GenBank Seqs
1
MITOMAP General GenBank Curated refs
1
Gnomad31 filter
Npg
Gnomad31 AC hom
0
Gnomad31 AC het
0
Gnomad31 AF hom
0
Gnomad31 AF het
0
Gnomad31 AN
56222
HelixMTdb AC hom
.
HelixMTdb AF hom
.
HelixMTdb AC het
.
HelixMTdb AF het
.
HelixMTdb mean ARF
.
HelixMTdb max ARF
.
COSMIC 90
.
dbSNP 155

Residue interaction

EVmutation
Site A-B InterP
Site A-B IntraP
ΔΔG intra
ΔΔG intra interface
ΔΔG inter

Compensated Pathogenic Deviations

Frequency
.
AA ref
.
CPD AA alt
.
Aln pos
.
RefSeq protein ID
.
Species name
.
Ncbi taxon ID
.
~ 3490 (A/G) 3490 (A/C) 3491 (A/C) 3491 (A/T) 3492 (A/T) 3492 (A/C)
~ 3490 (Aaa/Gaa) 3490 (Aaa/Caa) 3491 (aAa/aCa) 3491 (aAa/aTa) 3492 (aaA/aaT) 3492 (aaA/aaC)
Chr chrM chrM chrM chrM chrM chrM
Start 3490 3490 3491 3491 3492 3492
End 3490 3490 3491 3491 3492 3492
Ref A A A A A A
Alt G C C T T C
MitImpact id MI.11141 MI.11142 MI.11143 MI.11144 MI.11145 MI.11146
Gene symbol MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1 MT-ND1
Respiratory Chain complex I I I I I I
Ensembl gene id ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888 ENSG00000198888
Ensembl protein id ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687 ENSP00000354687
Ensembl transcript id ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390 ENST00000361390
Uniprot name NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN
Uniprot id P03886 P03886 P03886 P03886 P03886 P03886
Ncbi gene id 4535 4535 4535 4535 4535 4535
Ncbi protein id YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1 YP_003024026.1
Gene position 184 184 185 185 186 186
AA position 62 62 62 62 62 62
AA ref K K K K K K
AA alt E Q T M N N
Codon substitution Aaa/Gaa Aaa/Caa aAa/aCa aAa/aTa aaA/aaT aaA/aaC
PhyloP 100V 0.451339 0.451339 0.218937 0.218937 -5.8235 -5.8235
PhastCons 100V 0 0 0 0 0 0
PolyPhen2 benign benign benign possibly_damaging benign benign
PolyPhen2 score 0.18 0.02 0.41 0.58 0.26 0.26
SIFT neutral neutral neutral neutral neutral neutral
SIFT score 1.0 0.59 0.59 0.12 0.51 0.51
SIFT4G Damaging Tolerated Damaging Damaging Damaging Damaging
SIFT4G score 0.009 0.11 0.001 0 0.001 0.001
FatHmm neutral neutral neutral neutral neutral neutral
FatHmm score -0.79 -0.67 1.17 -0.08 -1.09 -1.09
FatHmmW neutral neutral neutral neutral neutral neutral
FatHmmW score 2.77 2.76 2.81 2.74 2.75 2.75
PROVEAN neutral neutral deleterious neutral neutral neutral
PROVEAN score -1.36 -0.29 -2.5 -2.33 -1.59 -1.59
MutationAssessor medium impact low impact neutral impact low impact low impact low impact
MutationAssessor score 1.95 1.32 0.55 1.05 1.29 1.29
EFIN SP neutral neutral neutral neutral neutral neutral
EFIN SP score 0.84 0.82 0.69 0.71 0.68 0.68
EFIN HD neutral neutral neutral neutral neutral neutral
EFIN HD score 0.7 0.97 0.66 0.61 0.67 0.67
CADD deleterious deleterious deleterious deleterious deleterious deleterious
CADD score 3.92 2.2 3.51 3.74 3.82 3.75
CADD phred 23.5 17.49 23.1 23.3 23.4 23.3
VEST pvalue 0.26 0.39 0.14 0.12 0.5 0.5
VEST FDR 0.45 0.5 0.4 0.4 0.6 0.6
PANTHER neutral neutral neutral neutral neutral neutral
PANTHER score 0.24 0.27 0.16 0.3 0.3 0.3
PhD-SNP disease neutral neutral neutral disease disease
PhD-SNP score 0.64 0.33 0.37 0.45 0.52 0.52
SNAP neutral neutral neutral neutral neutral neutral
SNAP score 0.43 0.25 0.38 0.28 0.28 0.28
Meta-SNP disease neutral neutral neutral disease disease
Meta-SNP score 0.5 0.44 0.43 0.49 0.5 0.5
Meta-SNP RI 0 1 1 0 0 0
CAROL neutral neutral neutral neutral neutral neutral
CAROL score 0.18 0.38 0.37 0.88 0.39 0.39
Condel deleterious deleterious deleterious neutral deleterious deleterious
Condel score 0.91 0.79 0.59 0.27 0.63 0.63
COVEC WMV neutral neutral neutral neutral neutral neutral
COVEC WMV score -3 -6 -6 -3 -6 -6
MtoolBox neutral neutral neutral deleterious neutral neutral
MtoolBox DS 0.27 0.16 0.37 0.5 0.38 0.38
PolyPhen2 transf medium impact medium impact medium impact medium impact medium impact medium impact
PolyPhen2 transf score -0.13 0.84 -0.6 -0.88 -0.32 -0.32
SIFT_transf high impact medium impact medium impact medium impact medium impact medium impact
SIFT transf score 1.96 0.36 0.36 -0.21 0.29 0.29
MutationAssessor transf medium impact medium impact medium impact medium impact medium impact medium impact
MutationAssessor transf score 0.52 -0.04 -0.71 -0.27 -0.06 -0.06
CHASM pvalue 0.42 0.36 0.2 0.19 0.34 0.34
CHASM FDR 0.8 0.8 0.8 0.8 0.8 0.8
APOGEE1 Neutral Neutral Neutral Neutral Neutral Neutral
APOGEE1 score 0.25 0.36 0.3 0.41 0.38 0.38
APOGEE2 Likely-benign Likely-benign Likely-benign VUS- Likely-benign Likely-benign
APOGEE2 score 0.120080038285879 0.153817425150168 0.250683507845739 0.284336980000649 0.185893546384039 0.185893546384039
SNPDryad score 0.74 0.59 0.75 0.78 0.59 0.59
MutationTaster polymorphism polymorphism polymorphism polymorphism polymorphism polymorphism
MutationTaster score 1 1 1 1 1 1
DEOGEN2 score 0.02 0.01 0.07 0.07 0.02 0.02
Mitoclass.1 neutral neutral neutral neutral neutral neutral
dbSNP 155 id . . . . . rs878950749
ClinVar July2022 Variation id . . . . . .
ClinVar July2022 CLNSIG . . . . . .
ClinVar July2022 CLNDN . . . . . .
ClinVar July2022 CLNDISDB . . . . . .
COSMIC 90 . . . . . .
MITOMAP Allele . . . . . .
MITOMAP Disease Het/Hom . . . . . .
MITOMAP Disease Clinical info . . . . . .
MITOMAP Disease Status . . . . . .
MITOMAP Disease GenBank Freq . . . . . .
MITOMAP Disease GenBank Seqs . . . . . .
MITOMAP Disease GenBank Curated refs . . . . . .
MITOMAP General GenBank Freq . . . . . 0.00002
MITOMAP General GenBank Seqs . . . . . 1
MITOMAP General Curated refs . . . . . 1
gnomAD 3.1 filter . . . . . npg
gnomAD 3.1 AC Homo . . . . . 0
gnomAD 3.1 AC Het . . . . . 0
gnomAD 3.1 AF Hom . . . . . 0
gnomAD 3.1 AF Het . . . . . 0
gnomAD 3.1 AN . . . . . 56222
HelixMTdb AC Hom . . . . . .
HelixMTdb AF Hom . . . . . .
HelixMTdb AC Het . . . . . .
HelixMTdb AF Het . . . . . .
HelixMTdb mean ARF . . . . . .
HelixMTdb max ARF . . . . . .
EVmutation MT-ND1_62K|72I:0.189929;66S:0.140557;68I:0.127828;63P:0.110243;216A:0.080946;89L:0.077279;71Y:0.073689;217A:0.072198;158G:0.067654;246T:0.06375;69T:0.063669 MT-ND1_62K|72I:0.189929;66S:0.140557;68I:0.127828;63P:0.110243;216A:0.080946;89L:0.077279;71Y:0.073689;217A:0.072198;158G:0.067654;246T:0.06375;69T:0.063669 MT-ND1_62K|72I:0.189929;66S:0.140557;68I:0.127828;63P:0.110243;216A:0.080946;89L:0.077279;71Y:0.073689;217A:0.072198;158G:0.067654;246T:0.06375;69T:0.063669 MT-ND1_62K|72I:0.189929;66S:0.140557;68I:0.127828;63P:0.110243;216A:0.080946;89L:0.077279;71Y:0.073689;217A:0.072198;158G:0.067654;246T:0.06375;69T:0.063669 MT-ND1_62K|72I:0.189929;66S:0.140557;68I:0.127828;63P:0.110243;216A:0.080946;89L:0.077279;71Y:0.073689;217A:0.072198;158G:0.067654;246T:0.06375;69T:0.063669 MT-ND1_62K|72I:0.189929;66S:0.140557;68I:0.127828;63P:0.110243;216A:0.080946;89L:0.077279;71Y:0.073689;217A:0.072198;158G:0.067654;246T:0.06375;69T:0.063669
Site A InterP ND1_62 ND1_62 ND1_62 ND1_62 ND1_62 ND1_62
Site B InterP ND2_321;ND4L_92;ND6_131;ND2_6;ND3_49;ND3_45;ND3_18;ND3_79;ND3_92;ND3_91;ND3_85;ND4_163;ND4L_80;ND4L_58;ND4L_48;ND5_41;ND5_420;ND5_503;ND5_509;ND6_120;ND6_139;ND6_7 ND2_321;ND4L_92;ND6_131;ND2_6;ND3_49;ND3_45;ND3_18;ND3_79;ND3_92;ND3_91;ND3_85;ND4_163;ND4L_80;ND4L_58;ND4L_48;ND5_41;ND5_420;ND5_503;ND5_509;ND6_120;ND6_139;ND6_7 ND2_321;ND4L_92;ND6_131;ND2_6;ND3_49;ND3_45;ND3_18;ND3_79;ND3_92;ND3_91;ND3_85;ND4_163;ND4L_80;ND4L_58;ND4L_48;ND5_41;ND5_420;ND5_503;ND5_509;ND6_120;ND6_139;ND6_7 ND2_321;ND4L_92;ND6_131;ND2_6;ND3_49;ND3_45;ND3_18;ND3_79;ND3_92;ND3_91;ND3_85;ND4_163;ND4L_80;ND4L_58;ND4L_48;ND5_41;ND5_420;ND5_503;ND5_509;ND6_120;ND6_139;ND6_7 ND2_321;ND4L_92;ND6_131;ND2_6;ND3_49;ND3_45;ND3_18;ND3_79;ND3_92;ND3_91;ND3_85;ND4_163;ND4L_80;ND4L_58;ND4L_48;ND5_41;ND5_420;ND5_503;ND5_509;ND6_120;ND6_139;ND6_7 ND2_321;ND4L_92;ND6_131;ND2_6;ND3_49;ND3_45;ND3_18;ND3_79;ND3_92;ND3_91;ND3_85;ND4_163;ND4L_80;ND4L_58;ND4L_48;ND5_41;ND5_420;ND5_503;ND5_509;ND6_120;ND6_139;ND6_7
Covariation Score InterP mfDCA_26.65;mfDCA_32.46;mfDCA_33.28;cMI_49.81888;cMI_36.38655;cMI_34.76365;cMI_34.45007;cMI_33.97552;cMI_33.01791;cMI_32.12901;cMI_31.90963;cMI_24.8798;cMI_54.94898;cMI_49.44061;cMI_49.30168;cMI_31.77544;cMI_30.59127;cMI_29.55244;cMI_29.13742;cMI_49.49418;cMI_47.67927;cMI_47.14359 mfDCA_26.65;mfDCA_32.46;mfDCA_33.28;cMI_49.81888;cMI_36.38655;cMI_34.76365;cMI_34.45007;cMI_33.97552;cMI_33.01791;cMI_32.12901;cMI_31.90963;cMI_24.8798;cMI_54.94898;cMI_49.44061;cMI_49.30168;cMI_31.77544;cMI_30.59127;cMI_29.55244;cMI_29.13742;cMI_49.49418;cMI_47.67927;cMI_47.14359 mfDCA_26.65;mfDCA_32.46;mfDCA_33.28;cMI_49.81888;cMI_36.38655;cMI_34.76365;cMI_34.45007;cMI_33.97552;cMI_33.01791;cMI_32.12901;cMI_31.90963;cMI_24.8798;cMI_54.94898;cMI_49.44061;cMI_49.30168;cMI_31.77544;cMI_30.59127;cMI_29.55244;cMI_29.13742;cMI_49.49418;cMI_47.67927;cMI_47.14359 mfDCA_26.65;mfDCA_32.46;mfDCA_33.28;cMI_49.81888;cMI_36.38655;cMI_34.76365;cMI_34.45007;cMI_33.97552;cMI_33.01791;cMI_32.12901;cMI_31.90963;cMI_24.8798;cMI_54.94898;cMI_49.44061;cMI_49.30168;cMI_31.77544;cMI_30.59127;cMI_29.55244;cMI_29.13742;cMI_49.49418;cMI_47.67927;cMI_47.14359 mfDCA_26.65;mfDCA_32.46;mfDCA_33.28;cMI_49.81888;cMI_36.38655;cMI_34.76365;cMI_34.45007;cMI_33.97552;cMI_33.01791;cMI_32.12901;cMI_31.90963;cMI_24.8798;cMI_54.94898;cMI_49.44061;cMI_49.30168;cMI_31.77544;cMI_30.59127;cMI_29.55244;cMI_29.13742;cMI_49.49418;cMI_47.67927;cMI_47.14359 mfDCA_26.65;mfDCA_32.46;mfDCA_33.28;cMI_49.81888;cMI_36.38655;cMI_34.76365;cMI_34.45007;cMI_33.97552;cMI_33.01791;cMI_32.12901;cMI_31.90963;cMI_24.8798;cMI_54.94898;cMI_49.44061;cMI_49.30168;cMI_31.77544;cMI_30.59127;cMI_29.55244;cMI_29.13742;cMI_49.49418;cMI_47.67927;cMI_47.14359
Site A IntraP ND1_62 ND1_62 ND1_62 ND1_62 ND1_62 ND1_62
Site B IntraP ND1_161;ND1_23;ND1_87;ND1_153;ND1_2;ND1_85;ND1_269;ND1_84;ND1_93;ND1_67;ND1_81;ND1_258;ND1_71;ND1_249 ND1_161;ND1_23;ND1_87;ND1_153;ND1_2;ND1_85;ND1_269;ND1_84;ND1_93;ND1_67;ND1_81;ND1_258;ND1_71;ND1_249 ND1_161;ND1_23;ND1_87;ND1_153;ND1_2;ND1_85;ND1_269;ND1_84;ND1_93;ND1_67;ND1_81;ND1_258;ND1_71;ND1_249 ND1_161;ND1_23;ND1_87;ND1_153;ND1_2;ND1_85;ND1_269;ND1_84;ND1_93;ND1_67;ND1_81;ND1_258;ND1_71;ND1_249 ND1_161;ND1_23;ND1_87;ND1_153;ND1_2;ND1_85;ND1_269;ND1_84;ND1_93;ND1_67;ND1_81;ND1_258;ND1_71;ND1_249 ND1_161;ND1_23;ND1_87;ND1_153;ND1_2;ND1_85;ND1_269;ND1_84;ND1_93;ND1_67;ND1_81;ND1_258;ND1_71;ND1_249
Covariation Score IntraP cMI_19.377666;cMI_16.296112;cMI_15.746119;cMI_15.655493;cMI_15.331367;cMI_15.294185;cMI_15.04784;cMI_14.834477;cMI_14.592816;cMI_14.04824;cMI_13.877844;cMI_13.72355;cMI_13.419802;cMI_13.405388 cMI_19.377666;cMI_16.296112;cMI_15.746119;cMI_15.655493;cMI_15.331367;cMI_15.294185;cMI_15.04784;cMI_14.834477;cMI_14.592816;cMI_14.04824;cMI_13.877844;cMI_13.72355;cMI_13.419802;cMI_13.405388 cMI_19.377666;cMI_16.296112;cMI_15.746119;cMI_15.655493;cMI_15.331367;cMI_15.294185;cMI_15.04784;cMI_14.834477;cMI_14.592816;cMI_14.04824;cMI_13.877844;cMI_13.72355;cMI_13.419802;cMI_13.405388 cMI_19.377666;cMI_16.296112;cMI_15.746119;cMI_15.655493;cMI_15.331367;cMI_15.294185;cMI_15.04784;cMI_14.834477;cMI_14.592816;cMI_14.04824;cMI_13.877844;cMI_13.72355;cMI_13.419802;cMI_13.405388 cMI_19.377666;cMI_16.296112;cMI_15.746119;cMI_15.655493;cMI_15.331367;cMI_15.294185;cMI_15.04784;cMI_14.834477;cMI_14.592816;cMI_14.04824;cMI_13.877844;cMI_13.72355;cMI_13.419802;cMI_13.405388 cMI_19.377666;cMI_16.296112;cMI_15.746119;cMI_15.655493;cMI_15.331367;cMI_15.294185;cMI_15.04784;cMI_14.834477;cMI_14.592816;cMI_14.04824;cMI_13.877844;cMI_13.72355;cMI_13.419802;cMI_13.405388
CPD AA ref . . . . . .
CPD AA alt . . . . . .
CPD Aln pos . . . . . .
CPD Frequency . . . . . .
CPD Species name . . . . . .
CPD RefSeq Protein ID . . . . . .
CPD Ncbi Taxon id . . . . . .
DDG intra MT-ND1:K62E:A249S:1.04071:0.581859:0.416877;MT-ND1:K62E:A249P:-0.397685:0.581859:-0.969457;MT-ND1:K62E:A249V:0.99437:0.581859:0.387706;MT-ND1:K62E:A249G:0.847108:0.581859:0.24999;MT-ND1:K62E:A249E:0.585371:0.581859:-0.081467;MT-ND1:K62E:A249T:1.1826:0.581859:0.585672;MT-ND1:K62E:N93T:0.732472:0.581859:0.161189;MT-ND1:K62E:N93H:0.18544:0.581859:-0.430894;MT-ND1:K62E:N93K:-0.0759206:0.581859:-0.753586;MT-ND1:K62E:N93I:0.103405:0.581859:-0.528503;MT-ND1:K62E:N93Y:-0.445122:0.581859:-1.03778;MT-ND1:K62E:N93S:0.668844:0.581859:0.0416942;MT-ND1:K62E:N93D:0.824512:0.581859:0.206064;MT-ND1:K62E:P2R:1.25558:0.581859:0.63914;MT-ND1:K62E:P2T:0.79863:0.581859:0.178692;MT-ND1:K62E:P2H:1.50412:0.581859:0.926272;MT-ND1:K62E:P2L:0.757612:0.581859:0.109703;MT-ND1:K62E:P2A:1.06867:0.581859:0.449523;MT-ND1:K62E:P2S:0.676861:0.581859:0.119094 MT-ND1:K62Q:A249G:0.776656:0.490174:0.24999;MT-ND1:K62Q:A249E:0.44095:0.490174:-0.081467;MT-ND1:K62Q:A249P:-0.510834:0.490174:-0.969457;MT-ND1:K62Q:A249V:0.839957:0.490174:0.387706;MT-ND1:K62Q:A249T:1.09273:0.490174:0.585672;MT-ND1:K62Q:N93D:0.669307:0.490174:0.206064;MT-ND1:K62Q:N93Y:-0.546119:0.490174:-1.03778;MT-ND1:K62Q:N93S:0.561219:0.490174:0.0416942;MT-ND1:K62Q:N93H:0.0321485:0.490174:-0.430894;MT-ND1:K62Q:N93T:0.648411:0.490174:0.161189;MT-ND1:K62Q:N93I:-0.0709373:0.490174:-0.528503;MT-ND1:K62Q:A249S:0.907528:0.490174:0.416877;MT-ND1:K62Q:N93K:-0.238147:0.490174:-0.753586;MT-ND1:K62Q:P2L:0.550066:0.490174:0.109703;MT-ND1:K62Q:P2T:0.666497:0.490174:0.178692;MT-ND1:K62Q:P2A:0.932338:0.490174:0.449523;MT-ND1:K62Q:P2S:0.605205:0.490174:0.119094;MT-ND1:K62Q:P2H:1.37583:0.490174:0.926272;MT-ND1:K62Q:P2R:1.19271:0.490174:0.63914 MT-ND1:K62T:A249S:1.17339:0.677214:0.416877;MT-ND1:K62T:A249T:1.35942:0.677214:0.585672;MT-ND1:K62T:A249V:1.17436:0.677214:0.387706;MT-ND1:K62T:A249P:-0.19227:0.677214:-0.969457;MT-ND1:K62T:A249E:0.779932:0.677214:-0.081467;MT-ND1:K62T:A249G:0.961282:0.677214:0.24999;MT-ND1:K62T:N93I:0.26794:0.677214:-0.528503;MT-ND1:K62T:N93T:0.832255:0.677214:0.161189;MT-ND1:K62T:N93S:0.765149:0.677214:0.0416942;MT-ND1:K62T:N93K:0.0471628:0.677214:-0.753586;MT-ND1:K62T:N93D:0.960075:0.677214:0.206064;MT-ND1:K62T:N93H:0.453655:0.677214:-0.430894;MT-ND1:K62T:N93Y:-0.237635:0.677214:-1.03778;MT-ND1:K62T:P2H:1.65574:0.677214:0.926272;MT-ND1:K62T:P2A:1.19454:0.677214:0.449523;MT-ND1:K62T:P2T:0.992374:0.677214:0.178692;MT-ND1:K62T:P2R:1.47925:0.677214:0.63914;MT-ND1:K62T:P2S:0.803022:0.677214:0.119094;MT-ND1:K62T:P2L:0.628657:0.677214:0.109703 MT-ND1:K62M:A249G:-0.871784:-1.08529:0.24999;MT-ND1:K62M:A249E:-1.00519:-1.08529:-0.081467;MT-ND1:K62M:A249S:-0.659035:-1.08529:0.416877;MT-ND1:K62M:A249P:-2.05651:-1.08529:-0.969457;MT-ND1:K62M:A249V:-0.682354:-1.08529:0.387706;MT-ND1:K62M:A249T:-0.493693:-1.08529:0.585672;MT-ND1:K62M:N93S:-1.05384:-1.08529:0.0416942;MT-ND1:K62M:N93D:-0.901726:-1.08529:0.206064;MT-ND1:K62M:N93Y:-2.12038:-1.08529:-1.03778;MT-ND1:K62M:N93H:-1.48116:-1.08529:-0.430894;MT-ND1:K62M:N93K:-1.80338:-1.08529:-0.753586;MT-ND1:K62M:N93I:-1.62462:-1.08529:-0.528503;MT-ND1:K62M:N93T:-0.884002:-1.08529:0.161189;MT-ND1:K62M:P2S:-0.930917:-1.08529:0.119094;MT-ND1:K62M:P2A:-0.641795:-1.08529:0.449523;MT-ND1:K62M:P2L:-1.02882:-1.08529:0.109703;MT-ND1:K62M:P2H:-0.203589:-1.08529:0.926272;MT-ND1:K62M:P2T:-0.806913:-1.08529:0.178692;MT-ND1:K62M:P2R:-0.413394:-1.08529:0.63914 MT-ND1:K62N:A249S:1.13755:0.851927:0.416877;MT-ND1:K62N:A249E:0.842145:0.851927:-0.081467;MT-ND1:K62N:A249V:1.18013:0.851927:0.387706;MT-ND1:K62N:A249G:0.800294:0.851927:0.24999;MT-ND1:K62N:A249T:1.40202:0.851927:0.585672;MT-ND1:K62N:A249P:-0.0113826:0.851927:-0.969457;MT-ND1:K62N:N93Y:-0.243065:0.851927:-1.03778;MT-ND1:K62N:N93D:1.1439:0.851927:0.206064;MT-ND1:K62N:N93H:0.251854:0.851927:-0.430894;MT-ND1:K62N:N93K:0.122694:0.851927:-0.753586;MT-ND1:K62N:N93S:0.928952:0.851927:0.0416942;MT-ND1:K62N:N93I:0.0884897:0.851927:-0.528503;MT-ND1:K62N:N93T:1.01233:0.851927:0.161189;MT-ND1:K62N:P2A:1.27791:0.851927:0.449523;MT-ND1:K62N:P2S:0.939521:0.851927:0.119094;MT-ND1:K62N:P2L:0.733007:0.851927:0.109703;MT-ND1:K62N:P2T:1.11195:0.851927:0.178692;MT-ND1:K62N:P2R:1.50251:0.851927:0.63914;MT-ND1:K62N:P2H:1.68274:0.851927:0.926272 MT-ND1:K62N:A249S:1.13755:0.851927:0.416877;MT-ND1:K62N:A249E:0.842145:0.851927:-0.081467;MT-ND1:K62N:A249V:1.18013:0.851927:0.387706;MT-ND1:K62N:A249G:0.800294:0.851927:0.24999;MT-ND1:K62N:A249T:1.40202:0.851927:0.585672;MT-ND1:K62N:A249P:-0.0113826:0.851927:-0.969457;MT-ND1:K62N:N93Y:-0.243065:0.851927:-1.03778;MT-ND1:K62N:N93D:1.1439:0.851927:0.206064;MT-ND1:K62N:N93H:0.251854:0.851927:-0.430894;MT-ND1:K62N:N93K:0.122694:0.851927:-0.753586;MT-ND1:K62N:N93S:0.928952:0.851927:0.0416942;MT-ND1:K62N:N93I:0.0884897:0.851927:-0.528503;MT-ND1:K62N:N93T:1.01233:0.851927:0.161189;MT-ND1:K62N:P2A:1.27791:0.851927:0.449523;MT-ND1:K62N:P2S:0.939521:0.851927:0.119094;MT-ND1:K62N:P2L:0.733007:0.851927:0.109703;MT-ND1:K62N:P2T:1.11195:0.851927:0.178692;MT-ND1:K62N:P2R:1.50251:0.851927:0.63914;MT-ND1:K62N:P2H:1.68274:0.851927:0.926272
DDG intra interface . . . . . .
DDG inter MT-ND1:MT-ND3:5lc5:H:A:K62E:L79P:3.60749:0.412649542:3.76418948;MT-ND1:MT-ND3:5lc5:H:A:K62E:L79Q:2.87511:0.412649542:2.55721045;MT-ND1:MT-ND3:5lc5:H:A:K62E:L79R:4.30188:0.412649542:4.04436064;MT-ND1:MT-ND3:5lc5:H:A:K62E:L79V:2.28026:0.412649542:1.93022037;MT-ND1:MT-ND3:5lc5:H:A:K62E:L79M:0.09989:0.412649542:-0.440640628;MT-ND1:MT-ND3:5lc5:H:A:K62E:S45F:0.35208:0.412649542:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:K62E:S45A:0.6052:0.412649542:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:K62E:S45C:0.17853:0.412649542:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:K62E:S45P:-0.63057:0.412649542:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:K62E:S45T:0.10504:0.412649542:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:K62E:S45Y:0.51928:0.412649542:-0.209069446;MT-ND1:MT-ND3:5ldw:H:A:K62E:L79P:4.50268:0.301341236:3.95701027;MT-ND1:MT-ND3:5ldw:H:A:K62E:L79Q:2.36948:0.301341236:2.17544985;MT-ND1:MT-ND3:5ldw:H:A:K62E:L79R:5.50838:0.301341236:5.28492975;MT-ND1:MT-ND3:5ldw:H:A:K62E:L79V:1.39489:0.301341236:1.33322978;MT-ND1:MT-ND3:5ldw:H:A:K62E:L79M:-0.37051:0.301341236:-0.731390357;MT-ND1:MT-ND3:5ldw:H:A:K62E:S45F:0.36466:0.301341236:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:K62E:S45A:0.47682:0.301341236:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:K62E:S45C:0.01122:0.301341236:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:K62E:S45P:0.03594:0.301341236:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:K62E:S45T:0.55431:0.301341236:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:K62E:S45Y:0.95424:0.301341236:0.377010345;MT-ND1:MT-ND3:5ldx:H:A:K62E:L79P:4.743:0.575948715:4.08582926;MT-ND1:MT-ND3:5ldx:H:A:K62E:L79Q:2.45156:0.575948715:1.85684049;MT-ND1:MT-ND3:5ldx:H:A:K62E:L79R:5.67142:0.575948715:4.86520052;MT-ND1:MT-ND3:5ldx:H:A:K62E:L79V:1.63669:0.575948715:1.23217046;MT-ND1:MT-ND3:5ldx:H:A:K62E:L79M:-0.06359:0.575948715:-0.587769687;MT-ND1:MT-ND3:5ldx:H:A:K62E:S45F:1.10355:0.575948715:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:K62E:S45A:1.20875:0.575948715:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:K62E:S45C:1.04964:0.575948715:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:K62E:S45P:1.13652:0.575948715:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:K62E:S45T:0.90794:0.575948715:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:K62E:S45Y:1.06902:0.575948715:0.507420719 MT-ND1:MT-ND3:5lc5:H:A:K62Q:L79V:1.62769:-0.241339117:1.93022037;MT-ND1:MT-ND3:5lc5:H:A:K62Q:L79M:-0.76247:-0.241339117:-0.440640628;MT-ND1:MT-ND3:5lc5:H:A:K62Q:L79Q:2.23228:-0.241339117:2.55721045;MT-ND1:MT-ND3:5lc5:H:A:K62Q:L79R:4.12982:-0.241339117:4.04436064;MT-ND1:MT-ND3:5lc5:H:A:K62Q:L79P:3.41535:-0.241339117:3.76418948;MT-ND1:MT-ND3:5lc5:H:A:K62Q:S45P:-1.35861:-0.241339117:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:K62Q:S45A:-0.4992:-0.241339117:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:K62Q:S45Y:-0.52016:-0.241339117:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:K62Q:S45C:-0.63482:-0.241339117:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:K62Q:S45T:-0.06226:-0.241339117:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:K62Q:S45F:-0.52595:-0.241339117:-0.184449762;MT-ND1:MT-ND3:5ldw:H:A:K62Q:L79V:1.27141:-0.0290084835:1.33322978;MT-ND1:MT-ND3:5ldw:H:A:K62Q:L79M:-0.78372:-0.0290084835:-0.731390357;MT-ND1:MT-ND3:5ldw:H:A:K62Q:L79Q:2.05022:-0.0290084835:2.17544985;MT-ND1:MT-ND3:5ldw:H:A:K62Q:L79R:5.26848:-0.0290084835:5.28492975;MT-ND1:MT-ND3:5ldw:H:A:K62Q:L79P:3.94707:-0.0290084835:3.95701027;MT-ND1:MT-ND3:5ldw:H:A:K62Q:S45P:-0.30247:-0.0290084835:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:K62Q:S45A:-0.03384:-0.0290084835:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:K62Q:S45Y:0.34942:-0.0290084835:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:K62Q:S45C:-0.31279:-0.0290084835:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:K62Q:S45T:0.1782:-0.0290084835:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:K62Q:S45F:-0.08954:-0.0290084835:0.122009657;MT-ND1:MT-ND3:5ldx:H:A:K62Q:L79V:1.22648:0.0151092531:1.23217046;MT-ND1:MT-ND3:5ldx:H:A:K62Q:L79M:-0.52285:0.0151092531:-0.587769687;MT-ND1:MT-ND3:5ldx:H:A:K62Q:L79Q:1.86838:0.0151092531:1.85684049;MT-ND1:MT-ND3:5ldx:H:A:K62Q:L79R:4.79778:0.0151092531:4.86520052;MT-ND1:MT-ND3:5ldx:H:A:K62Q:L79P:4.04125:0.0151092531:4.08582926;MT-ND1:MT-ND3:5ldx:H:A:K62Q:S45P:0.70032:0.0151092531:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:K62Q:S45A:0.53665:0.0151092531:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:K62Q:S45Y:0.52526:0.0151092531:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:K62Q:S45C:0.51468:0.0151092531:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:K62Q:S45T:0.27175:0.0151092531:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:K62Q:S45F:0.54544:0.0151092531:0.507999063 MT-ND1:MT-ND3:5lc5:H:A:K62T:L79V:2.6662:0.832580209:1.93022037;MT-ND1:MT-ND3:5lc5:H:A:K62T:L79R:4.85777:0.832580209:4.04436064;MT-ND1:MT-ND3:5lc5:H:A:K62T:L79M:0.3109:0.832580209:-0.440640628;MT-ND1:MT-ND3:5lc5:H:A:K62T:L79P:4.3808:0.832580209:3.76418948;MT-ND1:MT-ND3:5lc5:H:A:K62T:L79Q:3.27382:0.832580209:2.55721045;MT-ND1:MT-ND3:5lc5:H:A:K62T:S45P:-0.34137:0.832580209:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:K62T:S45Y:0.54121:0.832580209:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:K62T:S45C:0.2024:0.832580209:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:K62T:S45A:0.65075:0.832580209:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:K62T:S45T:0.92303:0.832580209:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:K62T:S45F:0.4885:0.832580209:-0.184449762;MT-ND1:MT-ND3:5ldw:H:A:K62T:L79V:1.36653:0.183251187:1.33322978;MT-ND1:MT-ND3:5ldw:H:A:K62T:L79R:5.42788:0.183251187:5.28492975;MT-ND1:MT-ND3:5ldw:H:A:K62T:L79M:-0.51625:0.183251187:-0.731390357;MT-ND1:MT-ND3:5ldw:H:A:K62T:L79P:4.04873:0.183251187:3.95701027;MT-ND1:MT-ND3:5ldw:H:A:K62T:L79Q:2.32473:0.183251187:2.17544985;MT-ND1:MT-ND3:5ldw:H:A:K62T:S45P:-0.15744:0.183251187:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:K62T:S45Y:0.36945:0.183251187:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:K62T:S45C:-0.11214:0.183251187:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:K62T:S45A:0.0492:0.183251187:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:K62T:S45T:0.1089:0.183251187:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:K62T:S45F:0.56165:0.183251187:0.122009657;MT-ND1:MT-ND3:5ldx:H:A:K62T:L79V:1.33255:0.109650038:1.23217046;MT-ND1:MT-ND3:5ldx:H:A:K62T:L79R:4.66289:0.109650038:4.86520052;MT-ND1:MT-ND3:5ldx:H:A:K62T:L79M:-0.50269:0.109650038:-0.587769687;MT-ND1:MT-ND3:5ldx:H:A:K62T:L79P:4.13879:0.109650038:4.08582926;MT-ND1:MT-ND3:5ldx:H:A:K62T:L79Q:1.99682:0.109650038:1.85684049;MT-ND1:MT-ND3:5ldx:H:A:K62T:S45P:0.63491:0.109650038:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:K62T:S45Y:0.59073:0.109650038:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:K62T:S45C:0.53656:0.109650038:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:K62T:S45A:0.59559:0.109650038:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:K62T:S45T:0.66071:0.109650038:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:K62T:S45F:0.42017:0.109650038:0.507999063 MT-ND1:MT-ND3:5lc5:H:A:K62M:L79Q:2.44352:-0.217529684:2.55721045;MT-ND1:MT-ND3:5lc5:H:A:K62M:L79M:-0.57962:-0.217529684:-0.440640628;MT-ND1:MT-ND3:5lc5:H:A:K62M:L79R:4.29266:-0.217529684:4.04436064;MT-ND1:MT-ND3:5lc5:H:A:K62M:L79V:1.70915:-0.217529684:1.93022037;MT-ND1:MT-ND3:5lc5:H:A:K62M:L79P:3.36341:-0.217529684:3.76418948;MT-ND1:MT-ND3:5lc5:H:A:K62M:S45Y:-0.42594:-0.217529684:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:K62M:S45A:-0.43482:-0.217529684:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:K62M:S45P:-1.30943:-0.217529684:-1.09178007;MT-ND1:MT-ND3:5lc5:H:A:K62M:S45C:-0.69975:-0.217529684:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:K62M:S45T:0.16331:-0.217529684:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:K62M:S45F:-0.40484:-0.217529684:-0.184449762;MT-ND1:MT-ND3:5ldw:H:A:K62M:L79Q:2.07633:-0.012728882:2.17544985;MT-ND1:MT-ND3:5ldw:H:A:K62M:L79M:-0.65982:-0.012728882:-0.731390357;MT-ND1:MT-ND3:5ldw:H:A:K62M:L79R:5.38456:-0.012728882:5.28492975;MT-ND1:MT-ND3:5ldw:H:A:K62M:L79V:1.42365:-0.012728882:1.33322978;MT-ND1:MT-ND3:5ldw:H:A:K62M:L79P:4.01617:-0.012728882:3.95701027;MT-ND1:MT-ND3:5ldw:H:A:K62M:S45Y:0.42674:-0.012728882:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:K62M:S45A:-0.02866:-0.012728882:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:K62M:S45P:-0.29642:-0.012728882:-0.288380057;MT-ND1:MT-ND3:5ldw:H:A:K62M:S45C:-0.04728:-0.012728882:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:K62M:S45T:0.2066:-0.012728882:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:K62M:S45F:0.10054:-0.012728882:0.122009657;MT-ND1:MT-ND3:5ldx:H:A:K62M:L79Q:1.98528:0.0504192337:1.85684049;MT-ND1:MT-ND3:5ldx:H:A:K62M:L79M:-0.42606:0.0504192337:-0.587769687;MT-ND1:MT-ND3:5ldx:H:A:K62M:L79R:4.90435:0.0504192337:4.86520052;MT-ND1:MT-ND3:5ldx:H:A:K62M:L79V:1.29942:0.0504192337:1.23217046;MT-ND1:MT-ND3:5ldx:H:A:K62M:L79P:4.14535:0.0504192337:4.08582926;MT-ND1:MT-ND3:5ldx:H:A:K62M:S45Y:0.57198:0.0504192337:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:K62M:S45A:0.60852:0.0504192337:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:K62M:S45P:0.68073:0.0504192337:0.854759216;MT-ND1:MT-ND3:5ldx:H:A:K62M:S45C:0.45475:0.0504192337:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:K62M:S45T:0.57074:0.0504192337:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:K62M:S45F:0.58069:0.0504192337:0.507999063 MT-ND1:MT-ND3:5lc5:H:A:K62N:L79M:0.36209:0.846379876:-0.440640628;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79R:4.67497:0.846379876:4.04436064;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79Q:3.40628:0.846379876:2.55721045;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79P:4.49723:0.846379876:3.76418948;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79V:2.52098:0.846379876:1.93022037;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45Y:0.51875:0.846379876:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45A:0.80299:0.846379876:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45C:0.47653:0.846379876:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45F:0.5255:0.846379876:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45T:0.92636:0.846379876:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45P:-0.31288:0.846379876:-1.09178007;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79M:-0.21654:0.465351105:-0.731390357;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79R:5.44033:0.465351105:5.28492975;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79Q:2.60588:0.465351105:2.17544985;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79P:4.43886:0.465351105:3.95701027;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79V:1.83971:0.465351105:1.33322978;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45Y:0.65123:0.465351105:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45A:0.44287:0.465351105:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45C:0.41846:0.465351105:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45F:0.64931:0.465351105:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45T:0.60346:0.465351105:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45P:0.17598:0.465351105:-0.288380057;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79M:-0.05793:0.452788532:-0.587769687;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79R:4.4806:0.452788532:4.86520052;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79Q:2.31552:0.452788532:1.85684049;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79P:4.57315:0.452788532:4.08582926;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79V:1.70418:0.452788532:1.23217046;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45Y:0.96298:0.452788532:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45A:1.01432:0.452788532:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45C:0.92703:0.452788532:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45F:0.97663:0.452788532:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45T:1.04835:0.452788532:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45P:1.25505:0.452788532:0.854759216 MT-ND1:MT-ND3:5lc5:H:A:K62N:L79M:0.36209:0.846379876:-0.440640628;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79R:4.67497:0.846379876:4.04436064;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79Q:3.40628:0.846379876:2.55721045;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79P:4.49723:0.846379876:3.76418948;MT-ND1:MT-ND3:5lc5:H:A:K62N:L79V:2.52098:0.846379876:1.93022037;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45Y:0.51875:0.846379876:-0.209069446;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45A:0.80299:0.846379876:-0.0903697982;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45C:0.47653:0.846379876:-0.407060623;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45F:0.5255:0.846379876:-0.184449762;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45T:0.92636:0.846379876:0.215980917;MT-ND1:MT-ND3:5lc5:H:A:K62N:S45P:-0.31288:0.846379876:-1.09178007;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79M:-0.21654:0.465351105:-0.731390357;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79R:5.44033:0.465351105:5.28492975;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79Q:2.60588:0.465351105:2.17544985;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79P:4.43886:0.465351105:3.95701027;MT-ND1:MT-ND3:5ldw:H:A:K62N:L79V:1.83971:0.465351105:1.33322978;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45Y:0.65123:0.465351105:0.377010345;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45A:0.44287:0.465351105:-0.0156085966;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45C:0.41846:0.465351105:-0.0661293045;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45F:0.64931:0.465351105:0.122009657;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45T:0.60346:0.465351105:0.170780182;MT-ND1:MT-ND3:5ldw:H:A:K62N:S45P:0.17598:0.465351105:-0.288380057;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79M:-0.05793:0.452788532:-0.587769687;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79R:4.4806:0.452788532:4.86520052;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79Q:2.31552:0.452788532:1.85684049;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79P:4.57315:0.452788532:4.08582926;MT-ND1:MT-ND3:5ldx:H:A:K62N:L79V:1.70418:0.452788532:1.23217046;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45Y:0.96298:0.452788532:0.507420719;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45A:1.01432:0.452788532:0.531179786;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45C:0.92703:0.452788532:0.429790109;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45F:0.97663:0.452788532:0.507999063;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45T:1.04835:0.452788532:0.424250036;MT-ND1:MT-ND3:5ldx:H:A:K62N:S45P:1.25505:0.452788532:0.854759216
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
ΔΔG values >±0.61 Kcal/mol are indicative of disrupting variants.
ΔΔG values close to zero (<±0.1 Kcal/mol) are indicative of possibly
compensating double mutants.
For more info, please check the output legend.
For more info, please check the output legend.
Score:  
0
  [min -20, max 10]
  • Predicted accelerated evolution:  score <= 0
  • Conserved:  score > 0
Score:  
0
  [min 0, max 1]
  • Non-conserved:  score <= 0.7
  • Conserved:  score > 0.7 (soft threshold)
Score:  
0
  [min 0, max 1]
  • Neutral:  score <= 0.15
  • Possibly damaging:  0.15 < score <= 0.85
  • Probably damaging:  score > 0.85
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.05
  • Deleterious:  score <= 0.05
Score:  
0
  [min -15, max 10]
  • Neutral:  score > -3
  • Deleterious:  score <= -3
Score:  
0
  [min -3, max 6]
  • Neutral:  score > -1.5
  • Deleterious:  score <= -1.5
Score:  
0
  [min -14, max 14]
  • Neutral:  score > -2.5
  • Deleterious:  score <= -2.5 (soft threshold)
Score:  
0
  [min -6, max 6]
  • Neutral:  score <= 0.8
  • Low impact:  0.8 < score <= 1.9
  • Medium impact:  1.9 < score <= 3.5
  • High impact:  score > 3.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.6
  • Damaging:  score <= 0.6
Score:  
0
  [min 0, max 1]
  • Neutral:  score > 0.28
  • Damaging:  score <= 0.28
Phred score:  
0
  [min 0, max 35]
  • Neutral:  score < 20 (soft threshold)
  • Deleterious:  score >= 20
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Polymorphism:  score < 0.5
  • Disease causing:  score >= 0.5
P-value:  
0
  [min 0, max 1]
  • Neutral:  p-value > 0.05
  • Pathogenic:  p-value <= 0.05
Score:  
0
  [min 0, max 1]
No hard-thresholds were indicated by authors (ref). Indicatively:
  • Neutral:  score < 0.9
  • Pathogenic:  score >= 0.9
No score. Categorical only
Please refer to Additional File 14: Table S10 for further details.
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.98
  • Deleterious:  score >= 0.98
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Disease:  score >= 0.5
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
Score:  
0
  [min -6, max 6]
  • Neutral:  score < 0
  • Deleterious:  score > 0
  • Inaccurate prediction:  score = 0
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5
  • Deleterious:  score >= 0.5
DS score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.43
  • Deleterious:  score >= 0.43
Pathogenicity score:  
0
  [min 0, max 1]
  • Neutral:  score ≤ 0.5
  • Pathogenic:  score > 0.5


Pathogenicity score for this variant:  
0
  [min 0, max 1]
ACMG-AMP curations for mitochondrial variants should use the raw scores. Standalone probabilities are shown below:
  • Benign:  score ≤ 0.062 (prob. ≤ 0.001)
  • Likely-benign:  0.062 < score ≤ 0.265 (0.001 < prob. ≤ 0.1)
  • Low-scoring VUS (VUS-):  0.265 < score ≤ 0.396 (0.1 < prob. ≤ 0.33)
  • VUS:  0.396 < score ≤ 0.544 (0.33 < prob. ≤ 0.66)
  • High-scoring VUS (VUS+):  0.544 < score < 0.716 (0.66 < prob. < 0.9)
  • Likely-pathogenic:  0.716 ≤ score < 0.907 (0.9 ≤ prob. < 0.99)
  • Pathogenic:  score ≥ 0.907 (prob. ≥ 0.99)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1 (soft threshold)
  • Medium impact:  -1 < score < 1.5 (soft threshold)
  • High impact:  score >= 1.5 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
Score:  
0
  [min -5, max 5]
  • Low impact:  score <= -1
  • Medium impact:  -1 < score < 2 (soft threshold)
  • High impact:  score >= 2 (soft threshold)
P-value:  
0
  [min 0, max 1]
  • Neutral:  FDR > 0.2
  • Driver:  FDR <= 0.2
The frequency of a CPD variant is proportional to the
number of aligned orthologous sequences that
carry a specific human pathogenic variant as
wild-type amino acid on the total number of aligned
sequences.

For more info, please check the output legend