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3697 (G > A)

General info

Mitimpact ID
MI.11568
Chr
chrM
Start
3697
Ref
G
Alt
A
Gene symbol
MT-ND1 Extended gene annotation
Gene position
391
Gene start
3307
Gene end
4262
Gene strand
+
Codon substitution
GGC/AGC
AA pos
131
AA ref
G
AA alt
S
Functional effect
missense
OMIM ID
516000
HGVS
NC_012920.1:g.3697G>A
HGNC ID
7455
RC complex
I
Ensembl gene ID
ENSG00000198888
Ensembl protein ID
ENSP00000354687
Ensembl transcript ID
ENST00000361390
Uniprot ID
P03886
Uniprot name
NU1M_HUMAN
Ncbi gene ID
4535
Ncbi protein ID
YP_003024026.1
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Powered by MitoWheel

Conservation

PhyloP 100v
7.56 Conservation Score
PhyloP 470way
0.602 Conservation Score
PhastCons 100v
1 Conservation Score
PhastCons 470way
0.026 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
Pathogenic 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 automatic 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
Damaging Score and details of the predictor
MLC
Deleterious Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Neutral Score and details of the meta-predictor
APOGEE2
Pathogenic 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
9733
Clinvar ALLELEID
24772
Clinvar CLNDISDB
Mondo:mondo:0010789, medgen:c0162671, omim:540000, orphanet:550;

mondo:mondo:0044970, medgen:c0751651, orphanet:68380;

human phenotype ontology:hp:0001086, human phenotype ontology:hp:0001112, mondo:mondo:0010788, medgen:c0917796, omim:535000, orphanet:104;

mondo:mondo:0010772, medgen:c1839040, omim:500001, orphanet:99718;

human phenotype ontology:hp:0001576, human phenotype ontology:hp:0001577, human phenotype ontology:hp:0006973, human phenotype ontology:hp:0007018, mondo:mondo:0007743, medgen:c1263846;

human phenotype ontology:hp:0001332, human phenotype ontology:hp:0002328, mondo:mondo:0003441, medgen:c0013421;

human phenotype ontology:hp:0002076, human phenotype ontology:hp:0007194, mondo:mondo:0005277, medgen:c0149931;

human phenotype ontology:hp:0002119, human phenotype ontology:hp:0002447, human phenotype ontology:hp:0005691, human phenotype ontology:hp:0007071, medgen:c3278923;

human phenotype ontology:hp:0002376, human phenotype ontology:hp:0002471, human phenotype ontology:hp:0002489, human phenotype ontology:hp:0006797, human phenotype ontology:hp:0006828, human phenotype ontology:hp:0006854, human phenotype ontology:hp:0007037, human phenotype ontology:hp:0007242, human phenotype ontology:hp:0007247, medgen:c1836830;

human phenotype ontology:hp:0001276, human phenotype ontology:hp:0002388, medgen:c0026826;

human phenotype ontology:hp:0001250, human phenotype ontology:hp:0001275, human phenotype ontology:hp:0001303, human phenotype ontology:hp:0002125, human phenotype ontology:hp:0002182, human phenotype ontology:hp:0002279, human phenotype ontology:hp:0002306, human phenotype ontology:hp:0002348, human phenotype ontology:hp:0002391, human phenotype ontology:hp:0002417, human phenotype ontology:hp:0002430, human phenotype ontology:hp:0002431, human phenotype ontology:hp:0002432, human phenotype ontology:hp:0002434, human phenotype ontology:hp:0002437, human phenotype ontology:hp:0002466, human phenotype ontology:hp:0002479, human phenotype ontology:hp:0002794, human phenotype ontology:hp:0006997, human phenotype ontology:hp:0010520, medgen:c0036572
Clinvar CLNDN
Juvenile myopathy, encephalopathy, lactic acidosis and stroke;

mitochondrial disease;

leber optic atrophy;

leber optic atrophy and dystonia;

attention deficit hyperactivity disorder;

dystonic disorder;

migraine;

ventriculomegaly;

developmental regression;

hypertonia;

seizure
Clinvar CLNSIG
Likely pathogenic
MITOMAP Allele
3697G>A
MITOMAP Disease Clinical info
Melas / leigh syndrome / ldyt / bsn
MITOMAP Disease Status
Cfrm [lp]
MITOMAP Disease Hom/Het
+/+
MITOMAP General GenBank Freq
0.0%
MITOMAP General GenBank Seqs
0
MITOMAP General GenBank Curated refs
23010433 31996177 37038312 28429146 30461153 17562939 34802141 18402672 18977334 24830958 15972314 15466014 27338358 26741492 20301353 30623604 16969869 21364701 30095618 21457906
MITOMAP Variant Class
disease
Gnomad AN
56428
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
3
HelixMTdb AF het
1.53e-05
HelixMTdb mean ARF
0.1970899
HelixMTdb max ARF
0.23226
ToMMo JPN54K AC
.
ToMMo JPN54K AF
.
ToMMo JPN54K AN
.
COSMIC 90
COSM6119904
dbSNP 156
rs199476122

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
.

3697 (G > C)

General info

Mitimpact ID
MI.11567
Chr
chrM
Start
3697
Ref
G
Alt
C
Gene symbol
MT-ND1 Extended gene annotation
Gene position
391
Gene start
3307
Gene end
4262
Gene strand
+
Codon substitution
GGC/CGC
AA pos
131
AA ref
G
AA alt
R
Functional effect
missense
OMIM ID
516000
HGVS
NC_012920.1:g.3697G>C
HGNC ID
7455
RC complex
I
Ensembl gene ID
ENSG00000198888
Ensembl protein ID
ENSP00000354687
Ensembl transcript ID
ENST00000361390
Uniprot ID
P03886
Uniprot name
NU1M_HUMAN
Ncbi gene ID
4535
Ncbi protein ID
YP_003024026.1
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Powered by MitoWheel

Conservation

PhyloP 100v
7.56 Conservation Score
PhyloP 470way
0.602 Conservation Score
PhastCons 100v
1 Conservation Score
PhastCons 470way
0.026 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
Pathogenic Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor
MutationTaster
Polymorphism 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
Damaging Score and details of the predictor
MLC
Deleterious Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Likely-pathogenic 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
High 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
3697G>C
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
.

3697 (G > T)

General info

Mitimpact ID
MI.11566
Chr
chrM
Start
3697
Ref
G
Alt
T
Gene symbol
MT-ND1 Extended gene annotation
Gene position
391
Gene start
3307
Gene end
4262
Gene strand
+
Codon substitution
GGC/TGC
AA pos
131
AA ref
G
AA alt
C
Functional effect
missense
OMIM ID
516000
HGVS
NC_012920.1:g.3697G>T
HGNC ID
7455
RC complex
I
Ensembl gene ID
ENSG00000198888
Ensembl protein ID
ENSP00000354687
Ensembl transcript ID
ENST00000361390
Uniprot ID
P03886
Uniprot name
NU1M_HUMAN
Ncbi gene ID
4535
Ncbi protein ID
YP_003024026.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
7.56 Conservation Score
PhyloP 470way
0.602 Conservation Score
PhastCons 100v
1 Conservation Score
PhastCons 470way
0.026 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
Pathogenic Score and details of the predictor
MitoClass 1
Damaging Score and details of the predictor
SNPDryad
Pathogenic Score and details of the predictor
MutationTaster
Polymorphism 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
Damaging Score and details of the predictor
MLC
Deleterious Score and details of the predictor
PANTHER
.
PhD-SNP
.

Pathogenicity meta-predictors

APOGEE1
Pathogenic Score and details of the meta-predictor
APOGEE2
Likely-pathogenic 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
High 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
3697G>T
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
0.0%
MITOMAP General GenBank Seqs
0
MITOMAP General GenBank Curated refs
16050984
MITOMAP Variant Class
polymorphism
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
.
~ 3697 (G/A) 3697 (G/C) 3697 (G/T)
~ 3697 (GGC/AGC) 3697 (GGC/CGC) 3697 (GGC/TGC)
MitImpact id MI.11568 MI.11567 MI.11566
Chr chrM chrM chrM
Start 3697 3697 3697
Ref G G G
Alt A C T
Gene symbol MT-ND1 MT-ND1 MT-ND1
Extended annotation mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
Gene position 391 391 391
Gene start 3307 3307 3307
Gene end 4262 4262 4262
Gene strand + + +
Codon substitution GGC/AGC GGC/CGC GGC/TGC
AA position 131 131 131
AA ref G G G
AA alt S R C
Functional effect general missense missense missense
Functional effect detailed missense missense missense
OMIM id 516000 516000 516000
HGVS NC_012920.1:g.3697G>A NC_012920.1:g.3697G>C NC_012920.1:g.3697G>T
HGNC id 7455 7455 7455
Respiratory Chain complex I I I
Ensembl gene id ENSG00000198888 ENSG00000198888 ENSG00000198888
Ensembl transcript id ENST00000361390 ENST00000361390 ENST00000361390
Ensembl protein id ENSP00000354687 ENSP00000354687 ENSP00000354687
Uniprot id P03886 P03886 P03886
Uniprot name NU1M_HUMAN NU1M_HUMAN NU1M_HUMAN
Ncbi gene id 4535 4535 4535
Ncbi protein id YP_003024026.1 YP_003024026.1 YP_003024026.1
PhyloP 100V 7.56 7.56 7.56
PhyloP 470Way 0.602 0.602 0.602
PhastCons 100V 1 1 1
PhastCons 470Way 0.026 0.026 0.026
PolyPhen2 probably_damaging probably_damaging probably_damaging
PolyPhen2 score 1.0 1.0 1.0
SIFT neutral neutral neutral
SIFT score 0.59 0.32 0.16
SIFT4G Damaging Damaging Damaging
SIFT4G score 0.0 0.011 0.0
VEST Pathogenic Pathogenic Pathogenic
VEST pvalue 0.02 0.02 0.01
VEST FDR 0.35 0.35 0.35
Mitoclass.1 damaging damaging damaging
SNPDryad Pathogenic Pathogenic Pathogenic
SNPDryad score 0.99 0.99 0.98
MutationTaster Disease automatic Polymorphism Polymorphism
MutationTaster score 1.6037e-06 0.999999 0.999999
MutationTaster converted rankscore 0.08975 0.08975 0.08975
MutationTaster model complex_aae complex_aae complex_aae
MutationTaster AAE G131S G131R G131C
fathmm Tolerated Tolerated Tolerated
fathmm score 1.99 1.92 1.9
fathmm converted rankscore 0.21666 0.23082 0.23486
AlphaMissense likely_pathogenic likely_pathogenic likely_pathogenic
AlphaMissense score 0.8418 0.9789 0.9578
CADD Deleterious Deleterious Deleterious
CADD score 4.161762 3.864107 4.102439
CADD phred 23.8 23.5 23.7
PROVEAN Damaging Damaging Damaging
PROVEAN score -5.44 -7.26 -8.18
MutationAssessor high high high
MutationAssessor score 3.555 4.94 4.94
EFIN SP Neutral Neutral Neutral
EFIN SP score 0.634 0.772 0.674
EFIN HD Damaging Damaging Damaging
EFIN HD score 0.136 0.134 0.092
MLC Deleterious Deleterious Deleterious
MLC score 0.89121251 0.89121251 0.89121251
PANTHER score . . .
PhD-SNP score . . .
APOGEE1 Neutral Pathogenic Pathogenic
APOGEE1 score 0.36 0.66 0.52
APOGEE2 Pathogenic Likely-pathogenic Likely-pathogenic
APOGEE2 score 0.931720717312461 0.845045813479349 0.873118235073735
CAROL deleterious deleterious deleterious
CAROL score 1.0 1.0 1.0
Condel neutral neutral neutral
Condel score 0.3 0.16 0.08
COVEC WMV deleterious deleterious deleterious
COVEC WMV score 1 2 2
MtoolBox deleterious deleterious deleterious
MtoolBox DS 0.85 0.91 0.9
DEOGEN2 Tolerated Tolerated Tolerated
DEOGEN2 score 0.263498 0.493182 0.491469
DEOGEN2 converted rankscore 0.63519 0.81684 0.81583
Meta-SNP . . .
Meta-SNP score . . .
PolyPhen2 transf low impact low impact low impact
PolyPhen2 transf score -3.57 -3.57 -3.57
SIFT_transf medium impact medium impact medium impact
SIFT transf score 0.36 0.09 -0.13
MutationAssessor transf medium impact high impact high impact
MutationAssessor transf score 1.75 3.13 3.13
CHASM Neutral Neutral Neutral
CHASM pvalue 0.56 0.52 0.24
CHASM FDR 0.8 0.8 0.8
ClinVar id 9733.0 . .
ClinVar Allele id 24772.0 . .
ClinVar CLNDISDB MONDO:MONDO:0010789,MedGen:C0162671,OMIM:540000,Orphanet:550|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:68380|Human_Phenotype_Ontology:HP:0001086,Human_Phenotype_Ontology:HP:0001112,MONDO:MONDO:0010788,MedGen:C0917796,OMIM:535000,Orphanet:104|MONDO:MONDO:0010772,MedGen:C1839040,OMIM:500001,Orphanet:99718|Human_Phenotype_Ontology:HP:0001576,Human_Phenotype_Ontology:HP:0001577,Human_Phenotype_Ontology:HP:0006973,Human_Phenotype_Ontology:HP:0007018,MONDO:MONDO:0007743,MedGen:C1263846|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|Human_Phenotype_Ontology:HP:0002076,Human_Phenotype_Ontology:HP:0007194,MONDO:MONDO:0005277,MedGen:C0149931|Human_Phenotype_Ontology:HP:0002119,Human_Phenotype_Ontology:HP:0002447,Human_Phenotype_Ontology:HP:0005691,Human_Phenotype_Ontology:HP:0007071,MedGen:C3278923|Human_Phenotype_Ontology:HP:0002376,Human_Phenotype_Ontology:HP:0002471,Human_Phenotype_Ontology:HP:0002489,Human_Phenotype_Ontology:HP:0006797,Human_Phenotype_Ontology:HP:0006828,Human_Phenotype_Ontology:HP:0006854,Human_Phenotype_Ontology:HP:0007037,Human_Phenotype_Ontology:HP:0007242,Human_Phenotype_Ontology:HP:0007247,MedGen:C1836830|Human_Phenotype_Ontology:HP:0001276,Human_Phenotype_Ontology:HP:0002388,MedGen:C0026826|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572 . .
ClinVar CLNDN Juvenile_myopathy,_encephalopathy,_lactic_acidosis_AND_stroke|Mitochondrial_disease|Leber_optic_atrophy|Leber_optic_atrophy_and_dystonia|Attention_deficit_hyperactivity_disorder|Dystonic_disorder|Migraine|Ventriculomegaly|Developmental_regression|Hypertonia|Seizure . .
ClinVar CLNSIG Likely_pathogenic . .
MITOMAP Disease Clinical info MELAS / Leigh Syndrome / LDYT / BSN . .
MITOMAP Disease Status Cfrm [LP] . .
MITOMAP Disease Hom/Het +/+ ./. ./.
MITOMAP General GenBank Freq 0.0% . 0.0%
MITOMAP General GenBank Seqs 0 . 0
MITOMAP General Curated refs 23010433;31996177;37038312;28429146;30461153;17562939;34802141;18402672;18977334;24830958;15972314;15466014;27338358;26741492;20301353;30623604;16969869;21364701;30095618;21457906 . 16050984
MITOMAP Variant Class disease . polymorphism
gnomAD 3.1 AN 56428.0 . .
gnomAD 3.1 AC Homo 0.0 . .
gnomAD 3.1 AF Hom 0.0 . .
gnomAD 3.1 AC Het 0.0 . .
gnomAD 3.1 AF Het 0.0 . .
gnomAD 3.1 filter npg . .
HelixMTdb AC Hom 0.0 . .
HelixMTdb AF Hom 0.0 . .
HelixMTdb AC Het 3.0 . .
HelixMTdb AF Het 1.530745e-05 . .
HelixMTdb mean ARF 0.19709 . .
HelixMTdb max ARF 0.23226 . .
ToMMo 54KJPN AC . . .
ToMMo 54KJPN AF . . .
ToMMo 54KJPN AN . . .
COSMIC 90 COSM6119904 . .
dbSNP 156 id rs199476122 . .
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