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10191 (T > G)

MT-ND1_5xtc_s_j_AA64V_SB45A MT-ND1_5xtc_s_j_AA64S_SB45A

General info

Mitimpact ID
MI.15246
Chr
chrM
Start
10191
Ref
T
Alt
G
Gene symbol
MT-ND3 Extended gene annotation
Gene position
133
Gene start
10059
Gene end
10404
Gene strand
+
Codon substitution
TCC/GCC
AA pos
45
AA ref
S
AA alt
A
Functional effect
missense
OMIM ID
516002
HGVS
NC_012920.1:g.10191T>G
HGNC ID
7458
RC complex
I
Ensembl gene ID
ENSG00000198840
Ensembl protein ID
ENSP00000355206
Ensembl transcript ID
ENST00000361227
Uniprot ID
P03897
Uniprot name
NU3M_HUMAN
Ncbi gene ID
4537
Ncbi protein ID
YP_003024033.1
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Powered by MitoWheel

Conservation

PhyloP 100v
3.307 Conservation Score
PhyloP 470way
-0.995 Conservation Score
PhastCons 100v
0.998 Conservation Score
PhastCons 470way
0.048 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
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
Tolerated Score and details of the predictor
Mutation Assessor
Low 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
Deleterious 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
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
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
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
10191T>G
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
.
MITOMAP Variant Class
polymorphism
Gnomad AN
56434
Gnomad AC hom
2
Gnomad AF hom
3.54e-05
Gnomad AC het
0
Gnomad AF het
0.0
Gnomad filter
Pass
HelixMTdb AC hom
2
HelixMTdb AF hom
1.02e-05
HelixMTdb AC het
0
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
.

10191 (T > A)

MT-ND1_5xtc_s_j_AA64S_SB45T MT-ND1_5xtc_s_j_AA64V_SB45T

General info

Mitimpact ID
MI.15247
Chr
chrM
Start
10191
Ref
T
Alt
A
Gene symbol
MT-ND3 Extended gene annotation
Gene position
133
Gene start
10059
Gene end
10404
Gene strand
+
Codon substitution
TCC/ACC
AA pos
45
AA ref
S
AA alt
T
Functional effect
missense
OMIM ID
516002
HGVS
NC_012920.1:g.10191T>A
HGNC ID
7458
RC complex
I
Ensembl gene ID
ENSG00000198840
Ensembl protein ID
ENSP00000355206
Ensembl transcript ID
ENST00000361227
Uniprot ID
P03897
Uniprot name
NU3M_HUMAN
Ncbi gene ID
4537
Ncbi protein ID
YP_003024033.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
3.307 Conservation Score
PhyloP 470way
-0.995 Conservation Score
PhastCons 100v
0.998 Conservation Score
PhastCons 470way
0.048 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
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
Tolerated Score and details of the predictor
Mutation Assessor
Low Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral 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
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
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
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
10191T>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
56434
Gnomad AC hom
1
Gnomad AF hom
1.77e-05
Gnomad AC het
0
Gnomad AF het
0.0
Gnomad filter
Pass
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
.

10191 (T > C)

MT-ND1_5xtc_s_j_NA126K_SB45P MT-ND1_5xtc_s_j_NA126Y_SB45P MT-ND1_5xtc_s_j_AA64G_SB45P MT-ND1_5xtc_s_j_NA126I_SB45P MT-ND1_5xtc_s_j_AA64T_SB45P MT-ND1_5xtc_s_j_KA62E_SB45P MT-ND1_5xtc_s_j_NA126S_SB45P MT-ND1_5xtc_s_j_NA126T_SB45P MT-ND1_5xtc_s_j_AA64V_SB45P MT-ND1_5xtc_s_j_AA64S_SB45P MT-ND1_5xtc_s_j_KA62T_SB45P MT-ND1_5xtc_s_j_KA62N_SB45P MT-ND1_5xtc_s_j_AA64D_SB45P MT-ND1_5xtc_s_j_NA126H_SB45P MT-ND1_5xtc_s_j_KA62M_SB45P MT-ND1_5xtc_s_j_KA62Q_SB45P MT-ND1_5xtc_s_j_NA126D_SB45P MT-ND1_5xtc_s_j_AA64P_SB45P

General info

Mitimpact ID
MI.15248
Chr
chrM
Start
10191
Ref
T
Alt
C
Gene symbol
MT-ND3 Extended gene annotation
Gene position
133
Gene start
10059
Gene end
10404
Gene strand
+
Codon substitution
TCC/CCC
AA pos
45
AA ref
S
AA alt
P
Functional effect
missense
OMIM ID
516002
HGVS
NC_012920.1:g.10191T>C
HGNC ID
7458
RC complex
I
Ensembl gene ID
ENSG00000198840
Ensembl protein ID
ENSP00000355206
Ensembl transcript ID
ENST00000361227
Uniprot ID
P03897
Uniprot name
NU3M_HUMAN
Ncbi gene ID
4537
Ncbi protein ID
YP_003024033.1
Powered by NGL Viewer
Powered by MitoWheel

Conservation

PhyloP 100v
3.307 Conservation Score
PhyloP 470way
-0.995 Conservation Score
PhastCons 100v
0.998 Conservation Score
PhastCons 470way
0.048 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
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
Disease automatic Score and details of the predictor
fathmm
Tolerated Score and details of the predictor
AlphaMissense
Ambiguous Score and details of the predictor
CADD
Neutral Score and details of the predictor
PROVEAN
Damaging Score and details of the predictor
Mutation Assessor
Medium Score and details of the predictor
EFIN SP
Damaging Score and details of the predictor
EFIN HD
Neutral 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
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
MtoolBox
Deleterious Score and details of the meta-predictor
DEOGEN2
Damaging 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
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
9712
Clinvar ALLELEID
24751
Clinvar CLNDISDB
Mondo:mondo:0027068, medgen:c4746992, omim:500014;

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

mondo:mondo:0009723, medgen:c0023264, omim:256000, orphanet:506;

mondo:mondo:0100133, medgen:c1838979, orphanet:2609
Clinvar CLNDN
Mitochondrial complex 1 deficiency, mitochondrial type 1;

mitochondrial disease;

leigh syndrome;

mitochondrial complex i deficiency
Clinvar CLNSIG
Pathogenic
MITOMAP Allele
10191T>C
MITOMAP Disease Clinical info
Leigh disease / esoc
MITOMAP Disease Status
Cfrm [p]
MITOMAP Disease Hom/Het
-/+
MITOMAP General GenBank Freq
0.0%
MITOMAP General GenBank Seqs
0
MITOMAP General GenBank Curated refs
14684687 37038312 28429146 16044424 30461153 19617458 27450679 30128709 37196589 17413873 14705112 17152068 20226758 18402672 18977334 35715829 15972314 23847141 38437941 24642831 26741492 16023078 11456298 21850008 15576045 20064630 17535832 29987491 21364701 30095618 21457906 31261379 20972245
MITOMAP Variant Class
disease
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
rs267606890

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
.
~ 10191 (T/G) 10191 (T/A) 10191 (T/C)
~ 10191 (TCC/GCC) 10191 (TCC/ACC) 10191 (TCC/CCC)
MitImpact id MI.15246 MI.15247 MI.15248
Chr chrM chrM chrM
Start 10191 10191 10191
Ref T T T
Alt G A C
Gene symbol MT-ND3 MT-ND3 MT-ND3
Extended annotation mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
Gene position 133 133 133
Gene start 10059 10059 10059
Gene end 10404 10404 10404
Gene strand + + +
Codon substitution TCC/GCC TCC/ACC TCC/CCC
AA position 45 45 45
AA ref S S S
AA alt A T P
Functional effect general missense missense missense
Functional effect detailed missense missense missense
OMIM id 516002 516002 516002
HGVS NC_012920.1:g.10191T>G NC_012920.1:g.10191T>A NC_012920.1:g.10191T>C
HGNC id 7458 7458 7458
Respiratory Chain complex I I I
Ensembl gene id ENSG00000198840 ENSG00000198840 ENSG00000198840
Ensembl transcript id ENST00000361227 ENST00000361227 ENST00000361227
Ensembl protein id ENSP00000355206 ENSP00000355206 ENSP00000355206
Uniprot id P03897 P03897 P03897
Uniprot name NU3M_HUMAN NU3M_HUMAN NU3M_HUMAN
Ncbi gene id 4537 4537 4537
Ncbi protein id YP_003024033.1 YP_003024033.1 YP_003024033.1
PhyloP 100V 3.307 3.307 3.307
PhyloP 470Way -0.995 -0.995 -0.995
PhastCons 100V 0.998 0.998 0.998
PhastCons 470Way 0.048 0.048 0.048
PolyPhen2 benign benign benign
PolyPhen2 score 0.09 0.09 0.43
SIFT neutral neutral neutral
SIFT score 0.79 0.6 0.3
SIFT4G Damaging Damaging Damaging
SIFT4G score 0.012 0.029 0.001
VEST Neutral Neutral Neutral
VEST pvalue 0.3 0.33 0.12
VEST FDR 0.45 0.5 0.4
Mitoclass.1 neutral neutral neutral
SNPDryad Neutral Neutral Neutral
SNPDryad score 0.1 0.13 0.6
MutationTaster Polymorphism Polymorphism Disease automatic
MutationTaster score 1 1 4.91678e-14
MutationTaster converted rankscore 0.08975 0.08975 0.08975
MutationTaster model complex_aae complex_aae complex_aae
MutationTaster AAE S45A S45T S45P
fathmm Tolerated Tolerated Tolerated
fathmm score 0.91 0.9 0.85
fathmm converted rankscore 0.44856 0.45248 0.47130
AlphaMissense likely_benign likely_benign ambiguous
AlphaMissense score 0.1205 0.1187 0.5228
CADD Neutral Neutral Neutral
CADD score 1.738785 1.815268 2.30741
CADD phred 14.63 15.08 18.21
PROVEAN Tolerated Tolerated Damaging
PROVEAN score -0.84 -1.76 -2.51
MutationAssessor low low medium
MutationAssessor score 1.575 1.135 2.895
EFIN SP Neutral Damaging Damaging
EFIN SP score 0.764 0.6 0.172
EFIN HD Neutral Neutral Neutral
EFIN HD score 0.814 0.648 0.352
MLC Deleterious Deleterious Deleterious
MLC score 0.50733297 0.50733297 0.50733297
PANTHER score . . .
PhD-SNP score . . .
APOGEE1 Neutral Neutral Pathogenic
APOGEE1 score 0.35 0.4 0.95
APOGEE2 Likely-benign Likely-benign Likely-pathogenic
APOGEE2 score 0.123940852115962 0.207107797390288 0.885009891987772
CAROL neutral neutral neutral
CAROL score 0.11 0.31 0.66
Condel deleterious deleterious neutral
Condel score 0.85 0.76 0.44
COVEC WMV neutral neutral neutral
COVEC WMV score -3 -3 -3
MtoolBox neutral neutral deleterious
MtoolBox DS 0.15 0.16 0.57
DEOGEN2 Tolerated Tolerated Damaging
DEOGEN2 score 0.334521 0.369006 0.550626
DEOGEN2 converted rankscore 0.70424 0.73379 0.84778
Meta-SNP . . .
Meta-SNP score . . .
PolyPhen2 transf medium impact medium impact medium impact
PolyPhen2 transf score 0.19 0.19 -0.61
SIFT_transf medium impact medium impact medium impact
SIFT transf score 0.51 0.29 -0.01
MutationAssessor transf medium impact medium impact medium impact
MutationAssessor transf score 1.07 0.84 1.53
CHASM Neutral Neutral Neutral
CHASM pvalue 0.35 0.48 0.22
CHASM FDR 0.8 0.8 0.8
ClinVar id . . 9712.0
ClinVar Allele id . . 24751.0
ClinVar CLNDISDB . . MONDO:MONDO:0027068,MedGen:C4746992,OMIM:500014|MONDO:MONDO:0044970,MedGen:C0751651,Orphanet:68380|MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609
ClinVar CLNDN . . Mitochondrial_complex_1_deficiency,_mitochondrial_type_1|Mitochondrial_disease|Leigh_syndrome|Mitochondrial_complex_I_deficiency
ClinVar CLNSIG . . Pathogenic
MITOMAP Disease Clinical info . . Leigh Disease / ESOC
MITOMAP Disease Status . . Cfrm [P]
MITOMAP Disease Hom/Het ./. ./. -/+
MITOMAP General GenBank Freq 0.0% . 0.0%
MITOMAP General GenBank Seqs 0 . 0
MITOMAP General Curated refs . . 14684687;37038312;28429146;16044424;30461153;19617458;27450679;30128709;37196589;17413873;14705112;17152068;20226758;18402672;18977334;35715829;15972314;23847141;38437941;24642831;26741492;16023078;11456298;21850008;15576045;20064630;17535832;29987491;21364701;30095618;21457906;31261379;20972245
MITOMAP Variant Class polymorphism . disease
gnomAD 3.1 AN 56434.0 56434.0 56433.0
gnomAD 3.1 AC Homo 2.0 1.0 0.0
gnomAD 3.1 AF Hom 3.54396e-05 1.77198e-05 0.0
gnomAD 3.1 AC Het 0.0 0.0 0.0
gnomAD 3.1 AF Het 0.0 0.0 0.0
gnomAD 3.1 filter PASS PASS npg
HelixMTdb AC Hom 2.0 . .
HelixMTdb AF Hom 1.0204967e-05 . .
HelixMTdb AC Het 0.0 . .
HelixMTdb AF Het 0.0 . .
HelixMTdb mean ARF . . .
HelixMTdb max ARF . . .
ToMMo 54KJPN AC . . .
ToMMo 54KJPN AF . . .
ToMMo 54KJPN AN . . .
COSMIC 90 . . .
dbSNP 156 id . . rs267606890
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