Chr :
chr15
Position :
42410958
Ref Allele :
G
Alt Allele :
C
AAChange refGene :
CAPN3:NM_173089:exon7:c.G343C:p.D115H,CAPN3:NM_173090:exon8:c.G343C:p.D115H,CAPN3:NM_173088:exon11:c.G802C:p.D268H,CAPN3:NM_173087:exon19:c.G2062C:p.D688H,CAPN3:NM_024344:exon21:c.G2320C:p.D774H,CAPN3:NM_000070:exon22:c.G2338C:p.D780H
UCSC :
chr15-42410958-G-C
OMIM :
CAPN3
dbSNP :
rs778768583
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

Clinical annotations are based on clinvar version 2019-03-05.

Disease condition(s) :
Limb-girdle_muscular_dystrophy,_type_2A|not_provided
Clinical significance :
Pathogenic/Likely_pathogenic
SIFT : Deleterious
Polyphen2 HDIV : Probably Damaging
Polyphen2 HVAR : Probably Damaging
LRT : Unknown
MutationTaster : Disease Causing
MutationAssessor : Medium
FATHMM : Deleterious
PROVEAN : D
VEST3 score : 0.965
VEST3 rankscore : 0.964
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.955
REVEL rankscore : 0.992
MutPred score : 0.904
MutPred rankscore : 0.979
CADD : 31
DANN score : 0.996
DANN rankscore : 0.739
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.981
Eigen PC raw : 0.922
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.66
integrated fitCons score rankscore : 0.495
integrated confidence value : 0
GERP++ RS : 5.4
GERP++_RS rankscore : 0.779
phyloP100way vertebrate : 8.151
phyloP100way vertebrate rankscore : 0.895
phyloP20way mammalian : 1.048
phyloP20way mammalian rankscore : 0.713
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.998
phastCons20way mammalian rankscore : 0.697
SiPhy 29way logOdds : 19.36
SiPhy 29way logOdds rankscore : 0.944
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2056
  • Homozygous :    0
  • Heterozygous :    1
1000 Genome
All AFR AMR EAS SAS EUR
- - - - - -
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
- - - - - - - - - -
GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -
Esp6500
All
-

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