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8538 (T > C)

General info

Mitimpact ID
MI.1810
Chr
chrM
Start
8538
Ref
T
Alt
C
Gene symbol
MT-ATP8 Extended gene annotation
Gene position
173
Gene start
8366
Gene end
8572
Gene strand
+
Codon substitution
ATC/ACC
AA pos
58
AA ref
I
AA alt
T
Functional effect
missense
OMIM ID
516070
HGVS
NC_012920.1:g.8538T>C
HGNC ID
7415
RC complex
V
Ensembl gene ID
ENSG00000228253
Ensembl protein ID
ENSP00000355265
Ensembl transcript ID
ENST00000361851
Uniprot ID
P03928
Uniprot name
ATP8_HUMAN
Ncbi gene ID
4509
Ncbi protein ID
YP_003024030.1
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Powered by MitoWheel

Conservation

PhyloP 100v
-0.164 Conservation Score
PhyloP 470way
0.742 Conservation Score
PhastCons 100v
0 Conservation Score
PhastCons 470way
0.808 Conservation Score

Pathogenicity predictors

PolyPhen2
Possibly damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Tolerated Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Neutral Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely benign Score and details of the predictor
CADD
Neutral Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
.
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Pathogenic 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
Neutral Score and details of the meta-predictor
COVEC WMV
.
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Tolerated Score and details of the meta-predictor
Meta SNP
.

Cancer-specific predictors

PolyPhen2 transf
Low 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 Frequencies and Phenotypes

Clinvar ID
235326
Clinvar ALLELEID
237013
Clinvar CLNDISDB
Medgen:cn517202
Clinvar CLNDN
Not provided
Clinvar CLNSIG
Uncertain significance
MITOMAP Allele
8538T>C
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
0.0785%
MITOMAP General GenBank Seqs
48
MITOMAP General GenBank Curated refs
19370763 23144833
MITOMAP Variant Class
polymorphism
Gnomad AN
56411
Gnomad AC hom
15
Gnomad AF hom
0.0002659
Gnomad AC het
3
Gnomad AF het
5.31e-05
Gnomad filter
Pass
HelixMTdb AC hom
56
HelixMTdb AF hom
0.0002857
HelixMTdb AC het
13
HelixMTdb AF het
6.63e-05
HelixMTdb mean ARF
0.32737
HelixMTdb max ARF
0.80347
ToMMo JPN54K AC
2
ToMMo JPN54K AF
3.7e-05
ToMMo JPN54K AN
54302
COSMIC 90
.
dbSNP 156
rs878853010

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
.

8538 (T > A)

General info

Mitimpact ID
MI.1809
Chr
chrM
Start
8538
Ref
T
Alt
A
Gene symbol
MT-ATP8 Extended gene annotation
Gene position
173
Gene start
8366
Gene end
8572
Gene strand
+
Codon substitution
ATC/AAC
AA pos
58
AA ref
I
AA alt
N
Functional effect
missense
OMIM ID
516070
HGVS
NC_012920.1:g.8538T>A
HGNC ID
7415
RC complex
V
Ensembl gene ID
ENSG00000228253
Ensembl protein ID
ENSP00000355265
Ensembl transcript ID
ENST00000361851
Uniprot ID
P03928
Uniprot name
ATP8_HUMAN
Ncbi gene ID
4509
Ncbi protein ID
YP_003024030.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.164 Conservation Score
PhyloP 470way
0.742 Conservation Score
PhastCons 100v
0 Conservation Score
PhastCons 470way
0.808 Conservation Score

Pathogenicity predictors

PolyPhen2
Probably damaging Score and details of the predictor
SIFT
Neutral Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely benign Score and details of the predictor
CADD
Deleterious Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
.
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

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

Cancer-specific predictors

PolyPhen2 transf
Low 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 Frequencies and Phenotypes

Clinvar ID
.
Clinvar ALLELEID
.
Clinvar CLNDISDB
.
Clinvar CLNDN
.
Clinvar CLNSIG
.
MITOMAP Allele
8538T>A
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
MITOMAP Variant Class
.
Gnomad AN
0
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
.
Gnomad AF het
.
Gnomad filter
.
HelixMTdb AC hom
0
HelixMTdb AF hom
0.0
HelixMTdb AC het
.
HelixMTdb AF het
0.0
HelixMTdb mean ARF
0.0
HelixMTdb max ARF
.
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
.
dbSNP 156
.

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
.

8538 (T > G)

General info

Mitimpact ID
MI.1808
Chr
chrM
Start
8538
Ref
T
Alt
G
Gene symbol
MT-ATP8 Extended gene annotation
Gene position
173
Gene start
8366
Gene end
8572
Gene strand
+
Codon substitution
ATC/AGC
AA pos
58
AA ref
I
AA alt
S
Functional effect
missense
OMIM ID
516070
HGVS
NC_012920.1:g.8538T>G
HGNC ID
7415
RC complex
V
Ensembl gene ID
ENSG00000228253
Ensembl protein ID
ENSP00000355265
Ensembl transcript ID
ENST00000361851
Uniprot ID
P03928
Uniprot name
ATP8_HUMAN
Ncbi gene ID
4509
Ncbi protein ID
YP_003024030.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.164 Conservation Score
PhyloP 470way
0.742 Conservation Score
PhastCons 100v
0 Conservation Score
PhastCons 470way
0.808 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
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Neutral Score and details of the predictor
MutationTaster
Polymorphism Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Ambiguous Score and details of the predictor
CADD
Deleterious Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
.
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Pathogenic 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
Neutral Score and details of the meta-predictor
COVEC WMV
.
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Tolerated Score and details of the meta-predictor
Meta SNP
.

Cancer-specific predictors

PolyPhen2 transf
Low 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 Frequencies and Phenotypes

Clinvar ID
.
Clinvar ALLELEID
.
Clinvar CLNDISDB
.
Clinvar CLNDN
.
Clinvar CLNSIG
.
MITOMAP Allele
8538T>G
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
MITOMAP Variant Class
.
Gnomad AN
56433
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
0
Gnomad AF het
0.0
Gnomad filter
Npg
HelixMTdb AC hom
0
HelixMTdb AF hom
0.0
HelixMTdb AC het
.
HelixMTdb AF het
0.0
HelixMTdb mean ARF
0.0
HelixMTdb max ARF
.
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
.
dbSNP 156
.

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
.

8538 (T > A)

General info

Mitimpact ID
MI.28
Chr
chrM
Start
8538
Ref
T
Alt
A
Gene symbol
MT-ATP6 Extended gene annotation
Gene position
12
Gene start
8527
Gene end
9207
Gene strand
+
Codon substitution
AAT/AAA
AA pos
4
AA ref
N
AA alt
K
Functional effect
missense
OMIM ID
516060
HGVS
NC_012920.1:g.8538T>A
HGNC ID
7414
RC complex
V
Ensembl gene ID
ENSG00000198899
Ensembl protein ID
ENSP00000354632
Ensembl transcript ID
ENST00000361899
Uniprot ID
P00846
Uniprot name
ATP6_HUMAN
Ncbi gene ID
4508
Ncbi protein ID
YP_003024031.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.164 Conservation Score
PhyloP 470way
0.742 Conservation Score
PhastCons 100v
0 Conservation Score
PhastCons 470way
0.808 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor
MutationTaster
Disease Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely pathogenic Score and details of the predictor
CADD
Deleterious Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
High Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

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

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Low 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 Frequencies and Phenotypes

Clinvar ID
.
Clinvar ALLELEID
.
Clinvar CLNDISDB
.
Clinvar CLNDN
.
Clinvar CLNSIG
.
MITOMAP Allele
8538T>A
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
MITOMAP Variant Class
.
Gnomad AN
0
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
.
Gnomad AF het
.
Gnomad filter
.
HelixMTdb AC hom
0
HelixMTdb AF hom
0.0
HelixMTdb AC het
.
HelixMTdb AF het
0.0
HelixMTdb mean ARF
0.0
HelixMTdb max ARF
.
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
.
dbSNP 156
.

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
.

8538 (T > G)

General info

Mitimpact ID
MI.29
Chr
chrM
Start
8538
Ref
T
Alt
G
Gene symbol
MT-ATP6 Extended gene annotation
Gene position
12
Gene start
8527
Gene end
9207
Gene strand
+
Codon substitution
AAT/AAG
AA pos
4
AA ref
N
AA alt
K
Functional effect
missense
OMIM ID
516060
HGVS
NC_012920.1:g.8538T>G
HGNC ID
7414
RC complex
V
Ensembl gene ID
ENSG00000198899
Ensembl protein ID
ENSP00000354632
Ensembl transcript ID
ENST00000361899
Uniprot ID
P00846
Uniprot name
ATP6_HUMAN
Ncbi gene ID
4508
Ncbi protein ID
YP_003024031.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
-0.164 Conservation Score
PhyloP 470way
0.742 Conservation Score
PhastCons 100v
0 Conservation Score
PhastCons 470way
0.808 Conservation Score

Pathogenicity predictors

PolyPhen2
Benign Score and details of the predictor
SIFT
Deleterious Score and details of the predictor
SIFT4G
Damaging Score and details of the predictor
VEST
Neutral Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor
MutationTaster
Disease Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Likely pathogenic Score and details of the predictor
CADD
Deleterious Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
High Score and details of the predictor
EFIN SP
Neutral Score and details of the predictor
EFIN HD
Neutral Score and details of the predictor
MLC
Neutral Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

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

Cancer-specific predictors

PolyPhen2 transf
Medium impact Score and details of the cancer-specific predictor
SIFT transf
Low 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 Frequencies and Phenotypes

Clinvar ID
.
Clinvar ALLELEID
.
Clinvar CLNDISDB
.
Clinvar CLNDN
.
Clinvar CLNSIG
.
MITOMAP Allele
8538T>G
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
.
MITOMAP General GenBank Seqs
.
MITOMAP General GenBank Curated refs
.
MITOMAP Variant Class
.
Gnomad AN
0
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
.
Gnomad AF het
.
Gnomad filter
.
HelixMTdb AC hom
0
HelixMTdb AF hom
0.0
HelixMTdb AC het
.
HelixMTdb AF het
0.0
HelixMTdb mean ARF
0.0
HelixMTdb max ARF
.
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
.
dbSNP 156
.

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
.
~ 8538 (T/C) 8538 (T/A) 8538 (T/G) 8538 (T/A) 8538 (T/G)
~ 8538 (ATC/ACC) 8538 (ATC/AAC) 8538 (ATC/AGC) 8538 (AAT/AAA) 8538 (AAT/AAG)
MitImpact id MI.1810 MI.1809 MI.1808 MI.28 MI.29
Chr chrM chrM chrM chrM chrM
Start 8538 8538 8538 8538 8538
Ref T T T T T
Alt C A G A G
Gene symbol MT-ATP8 MT-ATP8 MT-ATP8 MT-ATP6 MT-ATP6
Extended annotation mitochondrially encoded ATP synthase membrane subunit 8 mitochondrially encoded ATP synthase membrane subunit 8 mitochondrially encoded ATP synthase membrane subunit 8 mitochondrially encoded ATP synthase membrane subunit 6 mitochondrially encoded ATP synthase membrane subunit 6
Gene position 173 173 173 12 12
Gene start 8366 8366 8366 8527 8527
Gene end 8572 8572 8572 9207 9207
Gene strand + + + + +
Codon substitution ATC/ACC ATC/AAC ATC/AGC AAT/AAA AAT/AAG
AA position 58 58 58 4 4
AA ref I I I N N
AA alt T N S K K
Functional effect general missense missense missense missense missense
Functional effect detailed missense missense missense missense missense
OMIM id 516070 516070 516070 516060 516060
HGVS NC_012920.1:g.8538T>C NC_012920.1:g.8538T>A NC_012920.1:g.8538T>G NC_012920.1:g.8538T>A NC_012920.1:g.8538T>G
HGNC id 7415 7415 7415 7414 7414
Respiratory Chain complex V V V V V
Ensembl gene id ENSG00000228253 ENSG00000228253 ENSG00000228253 ENSG00000198899 ENSG00000198899
Ensembl transcript id ENST00000361851 ENST00000361851 ENST00000361851 ENST00000361899 ENST00000361899
Ensembl protein id ENSP00000355265 ENSP00000355265 ENSP00000355265 ENSP00000354632 ENSP00000354632
Uniprot id P03928 P03928 P03928 P00846 P00846
Uniprot name ATP8_HUMAN ATP8_HUMAN ATP8_HUMAN ATP6_HUMAN ATP6_HUMAN
Ncbi gene id 4509 4509 4509 4508 4508
Ncbi protein id YP_003024030.1 YP_003024030.1 YP_003024030.1 YP_003024031.1 YP_003024031.1
PhyloP 100V -0.164 -0.164 -0.164 -0.164 -0.164
PhyloP 470Way 0.742 0.742 0.742 0.742 0.742
PhastCons 100V 0 0 0 0 0
PhastCons 470Way 0.808 0.808 0.808 0.808 0.808
PolyPhen2 possibly_damaging probably_damaging possibly_damaging benign benign
PolyPhen2 score 0.9 0.97 0.9 0.07 0.07
SIFT neutral neutral neutral deleterious deleterious
SIFT score 0.48 0.17 0.39 0 0
SIFT4G Tolerated Damaging Damaging Damaging Damaging
SIFT4G score 0.072 0.0 0.0 0.002 0.002
VEST Neutral Neutral Neutral Neutral Neutral
VEST pvalue 0.46155204 0.29671997 0.30623305 0.63 0.63
VEST FDR 0.85 0.85 0.85 0.7 0.7
Mitoclass.1 neutral damaging damaging damaging damaging
SNPDryad Neutral Neutral Neutral Pathogenic Pathogenic
SNPDryad score 0.18 0.72 0.47 0.94 0.94
MutationTaster Polymorphism Polymorphism Polymorphism Disease Disease
MutationTaster score 0.993416 0.979881 0.974577 0.686741 0.686741
MutationTaster converted rankscore 0.81001 0.33286 0.33286 0.33286 0.33286
MutationTaster model simple_aae simple_aae simple_aae simple_aae simple_aae
MutationTaster AAE I58T I58N I58S N4K N4K
fathmm Tolerated Tolerated Tolerated Tolerated Tolerated
fathmm score 1.0 0.97 0.99 4.64 4.64
fathmm converted rankscore 0.41392 0.42502 0.41750 0.01799 0.01799
AlphaMissense likely_benign likely_benign ambiguous likely_pathogenic likely_pathogenic
AlphaMissense score 0.1739 0.2588 0.3753 0.663 0.663
CADD Neutral Deleterious Deleterious Deleterious Deleterious
CADD score 2.279772 4.652926 4.255362 4.652926 4.255362
CADD phred 18.03 24.5 23.9 24.5 23.9
PROVEAN Damaging Damaging Damaging Damaging Damaging
PROVEAN score -4.13 -6.05 -5.04 -3.89 -3.89
MutationAssessor . . . high high
MutationAssessor score . . . 4.085 4.085
EFIN SP Neutral Neutral Neutral Neutral Neutral
EFIN SP score 0.996 0.996 0.996 0.87 0.87
EFIN HD Neutral Neutral Neutral Neutral Neutral
EFIN HD score 0.818 0.37 0.35 0.35 0.35
MLC Neutral Neutral Neutral Neutral Neutral
MLC score 0.05938801 0.05938801 0.05938801 0.05938801 0.05938801
PANTHER score . . . . .
PhD-SNP score . . . . .
APOGEE1 Pathogenic Pathogenic Pathogenic Neutral Neutral
APOGEE1 score 0.52 0.58 0.55 0.47 0.48
APOGEE2 Likely-benign VUS- Likely-benign Likely-benign Likely-benign
APOGEE2 score 0.106946859383005 0.345197631958666 0.235316148494255 0.257695377367096 0.257695377367096
CAROL neutral deleterious neutral deleterious deleterious
CAROL score 0.89 0.98 0.9 1 1
Condel neutral neutral neutral neutral neutral
Condel score 0.29 0.1 0.25 0.47 0.47
COVEC WMV . deleterious . deleterious deleterious
COVEC WMV score 0 1 0 1 1
MtoolBox deleterious deleterious deleterious neutral neutral
MtoolBox DS 0.67 0.79 0.73 0.33 0.33
DEOGEN2 Tolerated Tolerated Tolerated Tolerated Tolerated
DEOGEN2 score 0.138032 0.239481 0.233361 0.334506 0.334506
DEOGEN2 converted rankscore 0.47130 0.60761 0.60015 0.70423 0.70423
Meta-SNP . . . . .
Meta-SNP score . . . . .
PolyPhen2 transf low impact low impact low impact medium impact medium impact
PolyPhen2 transf score -1.66 -2.19 -1.66 0.31 0.31
SIFT_transf medium impact medium impact medium impact low impact low impact
SIFT transf score 0.27 -0.1 0.18 -1.4 -1.4
MutationAssessor transf medium impact medium impact medium impact medium impact medium impact
MutationAssessor transf score 0.62 1.85 1.56 1.35 1.35
CHASM Neutral Neutral Neutral Neutral Neutral
CHASM pvalue 0.58 0.51 0.44 0.28 0.28
CHASM FDR 0.85 0.85 0.85 0.9 0.9
ClinVar id 235326.0 . . . .
ClinVar Allele id 237013.0 . . . .
ClinVar CLNDISDB MedGen:CN517202 . . . .
ClinVar CLNDN not_provided . . . .
ClinVar CLNSIG Uncertain_significance . . . .
MITOMAP Disease Clinical info . . . . .
MITOMAP Disease Status . . . . .
MITOMAP Disease Hom/Het ./. ./. ./. ./. ./.
MITOMAP General GenBank Freq 0.0785% . . . .
MITOMAP General GenBank Seqs 48 . . . .
MITOMAP General Curated refs 19370763;23144833 . . . .
MITOMAP Variant Class polymorphism . . . .
gnomAD 3.1 AN 56411.0 . 56433.0 . .
gnomAD 3.1 AC Homo 15.0 . 0.0 . .
gnomAD 3.1 AF Hom 0.000265906 . 0.0 . .
gnomAD 3.1 AC Het 3.0 . 0.0 . .
gnomAD 3.1 AF Het 5.31811e-05 . 0.0 . .
gnomAD 3.1 filter PASS . npg . .
HelixMTdb AC Hom 56.0 . . . .
HelixMTdb AF Hom 0.00028573908 . . . .
HelixMTdb AC Het 13.0 . . . .
HelixMTdb AF Het 6.6332286e-05 . . . .
HelixMTdb mean ARF 0.32737 . . . .
HelixMTdb max ARF 0.80347 . . . .
ToMMo 54KJPN AC 2 . . . .
ToMMo 54KJPN AF 3.7e-05 . . . .
ToMMo 54KJPN AN 54302 . . . .
COSMIC 90 . . . . .
dbSNP 156 id rs878853010 . . . .
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.
0
Details:
0
Score:  
0
  [min -20, max 10]
  • Predicted accelerated evolution:  score <= 0
  • Conserved:  score > 0
Score:  
0
  [min -20, max 12]
  • 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]
  • 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 -16.13, max 10.64]
  • Neutral:  score > 1.5
  • Deleterious:  score <= 1.5
Score:  
0
  [min 0.0, max 1.0]
  • Likely benign:  score <= 0.34
  • Ambiguous:  0.34 < score < 0.56
  • Likely pathogenic:  score >= 0.56
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 Unlimited]
  • Neutral:  score < 20 (soft threshold)
  • Deleterious:  score >= 20
Score:  
0
  [min 0, max 1]
  • Neutral:  score < 0.5 (soft threshold)
  • Deleterious:  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