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8406 (C > A)

General info

Mitimpact ID
MI.1532
Chr
chrM
Start
8406
Ref
C
Alt
A
Gene symbol
MT-ATP8 Extended gene annotation
Gene position
41
Gene start
8366
Gene end
8572
Gene strand
+
Codon substitution
ACC/AAC
AA pos
14
AA ref
T
AA alt
N
Functional effect
missense
OMIM ID
516070
HGVS
NC_012920.1:g.8406C>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
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Conservation

PhyloP 100v
1.277 Conservation Score
PhyloP 470way
-0.154 Conservation Score
PhastCons 100v
0.002 Conservation Score
PhastCons 470way
0.005 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
.
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
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
8406C>A
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
0
Gnomad AC hom
0
Gnomad AF hom
0.0
Gnomad AC het
.
Gnomad AF het
.
Gnomad filter
.
HelixMTdb AC hom
1
HelixMTdb AF hom
5.1e-06
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
.

8406 (C > G)

General info

Mitimpact ID
MI.1533
Chr
chrM
Start
8406
Ref
C
Alt
G
Gene symbol
MT-ATP8 Extended gene annotation
Gene position
41
Gene start
8366
Gene end
8572
Gene strand
+
Codon substitution
ACC/AGC
AA pos
14
AA ref
T
AA alt
S
Functional effect
missense
OMIM ID
516070
HGVS
NC_012920.1:g.8406C>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
1.277 Conservation Score
PhyloP 470way
-0.154 Conservation Score
PhastCons 100v
0.002 Conservation Score
PhastCons 470way
0.005 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
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
.
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
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
8406C>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
.

8406 (C > T)

General info

Mitimpact ID
MI.1531
Chr
chrM
Start
8406
Ref
C
Alt
T
Gene symbol
MT-ATP8 Extended gene annotation
Gene position
41
Gene start
8366
Gene end
8572
Gene strand
+
Codon substitution
ACC/ATC
AA pos
14
AA ref
T
AA alt
I
Functional effect
missense
OMIM ID
516070
HGVS
NC_012920.1:g.8406C>T
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
1.277 Conservation Score
PhyloP 470way
-0.154 Conservation Score
PhastCons 100v
0.002 Conservation Score
PhastCons 470way
0.005 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
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
.
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
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
692846
Clinvar ALLELEID
681382
Clinvar CLNDISDB
Mondo:mondo:0009723, medgen:c0023264, omim:256000, orphanet:506
Clinvar CLNDN
Leigh syndrome
Clinvar CLNSIG
Benign
MITOMAP Allele
8406C>T
MITOMAP Disease Clinical info
.
MITOMAP Disease Status
.
MITOMAP Disease Hom/Het
./.
MITOMAP General GenBank Freq
0.1161%
MITOMAP General GenBank Seqs
71
MITOMAP General GenBank Curated refs
16120352
MITOMAP Variant Class
polymorphism
Gnomad AN
56432
Gnomad AC hom
18
Gnomad AF hom
0.0003189
Gnomad AC het
0
Gnomad AF het
0.0
Gnomad filter
Pass
HelixMTdb AC hom
74
HelixMTdb AF hom
0.0003775
HelixMTdb AC het
4
HelixMTdb AF het
2.04e-05
HelixMTdb mean ARF
0.37405
HelixMTdb max ARF
0.5069399
ToMMo JPN54K AC
6
ToMMo JPN54K AF
0.00011
ToMMo JPN54K AN
54302
COSMIC 90
.
dbSNP 156
rs1556423448

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
.
~ 8406 (C/A) 8406 (C/G) 8406 (C/T)
~ 8406 (ACC/AAC) 8406 (ACC/AGC) 8406 (ACC/ATC)
MitImpact id MI.1532 MI.1533 MI.1531
Chr chrM chrM chrM
Start 8406 8406 8406
Ref C C C
Alt A G T
Gene symbol MT-ATP8 MT-ATP8 MT-ATP8
Extended annotation mitochondrially encoded ATP synthase membrane subunit 8 mitochondrially encoded ATP synthase membrane subunit 8 mitochondrially encoded ATP synthase membrane subunit 8
Gene position 41 41 41
Gene start 8366 8366 8366
Gene end 8572 8572 8572
Gene strand + + +
Codon substitution ACC/AAC ACC/AGC ACC/ATC
AA position 14 14 14
AA ref T T T
AA alt N S I
Functional effect general missense missense missense
Functional effect detailed missense missense missense
OMIM id 516070 516070 516070
HGVS NC_012920.1:g.8406C>A NC_012920.1:g.8406C>G NC_012920.1:g.8406C>T
HGNC id 7415 7415 7415
Respiratory Chain complex V V V
Ensembl gene id ENSG00000228253 ENSG00000228253 ENSG00000228253
Ensembl transcript id ENST00000361851 ENST00000361851 ENST00000361851
Ensembl protein id ENSP00000355265 ENSP00000355265 ENSP00000355265
Uniprot id P03928 P03928 P03928
Uniprot name ATP8_HUMAN ATP8_HUMAN ATP8_HUMAN
Ncbi gene id 4509 4509 4509
Ncbi protein id YP_003024030.1 YP_003024030.1 YP_003024030.1
PhyloP 100V 1.277 1.277 1.277
PhyloP 470Way -0.154 -0.154 -0.154
PhastCons 100V 0.002 0.002 0.002
PhastCons 470Way 0.005 0.005 0.005
PolyPhen2 benign benign benign
PolyPhen2 score 0.14 0.03 0.08
SIFT neutral neutral neutral
SIFT score 0.08 0.17 0.75
SIFT4G Damaging Tolerated Tolerated
SIFT4G score 0.003 0.141 0.348
VEST Neutral Neutral Neutral
VEST pvalue 0.48904297 0.53760445 0.56663707
VEST FDR 0.85 0.85 0.85
Mitoclass.1 neutral neutral neutral
SNPDryad Neutral Neutral Neutral
SNPDryad score 0.49 0.4 0.09
MutationTaster Polymorphism Polymorphism Polymorphism
MutationTaster score 1 1 1
MutationTaster converted rankscore 0.08975 0.08975 0.08975
MutationTaster model simple_aae simple_aae simple_aae
MutationTaster AAE T14N T14S T14I
fathmm Tolerated Tolerated Tolerated
fathmm score 1.93 1.99 2.1
fathmm converted rankscore 0.22881 0.21666 0.19990
AlphaMissense likely_benign likely_benign likely_benign
AlphaMissense score 0.2755 0.1309 0.0799
CADD Neutral Neutral Neutral
CADD score 1.568127 1.357956 -0.553118
CADD phred 13.68 12.57 0.163
PROVEAN Tolerated Tolerated Tolerated
PROVEAN score -2.41 -1.33 0.79
MutationAssessor . . .
MutationAssessor score . . .
EFIN SP Neutral Neutral Neutral
EFIN SP score 0.994 0.998 0.996
EFIN HD Neutral Neutral Neutral
EFIN HD score 0.606 0.874 0.938
MLC Neutral Neutral Neutral
MLC score 0.02589173 0.02589173 0.02589173
PANTHER score . . .
PhD-SNP score . . .
APOGEE1 Neutral Pathogenic Neutral
APOGEE1 score 0.49 0.54 0.31
APOGEE2 Likely-benign Likely-benign Benign
APOGEE2 score 0.0864878624996883 0.0631726931754774 0.0251676601770342
CAROL neutral neutral neutral
CAROL score 0.91 0.82 0.15
Condel deleterious deleterious deleterious
Condel score 0.47 0.57 0.84
COVEC WMV neutral neutral neutral
COVEC WMV score -3 -6 -6
MtoolBox neutral neutral neutral
MtoolBox DS 0.25 0.14 0.15
DEOGEN2 Tolerated Tolerated Tolerated
DEOGEN2 score 0.060892 0.029126 0.00968
DEOGEN2 converted rankscore 0.31508 0.20940 0.08796
Meta-SNP . . .
Meta-SNP score . . .
PolyPhen2 transf medium impact medium impact medium impact
PolyPhen2 transf score -0.01 0.68 0.25
SIFT_transf medium impact medium impact medium impact
SIFT transf score -0.31 -0.1 0.56
MutationAssessor transf medium impact medium impact medium impact
MutationAssessor transf score 0.79 -0.1 -0.79
CHASM Neutral Neutral Neutral
CHASM pvalue 0.8 0.75 0.71
CHASM FDR 0.85 0.85 0.85
ClinVar id . . 692846.0
ClinVar Allele id . . 681382.0
ClinVar CLNDISDB . . MONDO:MONDO:0009723,MedGen:C0023264,OMIM:256000,Orphanet:506
ClinVar CLNDN . . Leigh_syndrome
ClinVar CLNSIG . . Benign
MITOMAP Disease Clinical info . . .
MITOMAP Disease Status . . .
MITOMAP Disease Hom/Het ./. ./. ./.
MITOMAP General GenBank Freq 0.0% . 0.1161%
MITOMAP General GenBank Seqs 0 . 71
MITOMAP General Curated refs . . 16120352
MITOMAP Variant Class polymorphism . polymorphism
gnomAD 3.1 AN . . 56432.0
gnomAD 3.1 AC Homo . . 18.0
gnomAD 3.1 AF Hom . . 0.000318968
gnomAD 3.1 AC Het . . 0.0
gnomAD 3.1 AF Het . . 0.0
gnomAD 3.1 filter . . PASS
HelixMTdb AC Hom 1.0 . 74.0
HelixMTdb AF Hom 5.1024836e-06 . 0.00037758378
HelixMTdb AC Het 0.0 . 4.0
HelixMTdb AF Het 0.0 . 2.0409934e-05
HelixMTdb mean ARF . . 0.37405
HelixMTdb max ARF . . 0.50694
ToMMo 54KJPN AC . . 6
ToMMo 54KJPN AF . . 0.00011
ToMMo 54KJPN AN . . 54302
COSMIC 90 . . .
dbSNP 156 id . . rs1556423448
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