Chr :
chr15
Position :
42411750
Ref Allele :
C
Alt Allele :
G
AAChange refGene :
CAPN3:NM_173089:exon9:c.C448G:p.L150V,CAPN3:NM_173090:exon10:c.C448G:p.L150V,CAPN3:NM_173088:exon13:c.C907G:p.L303V,CAPN3:NM_173087:exon21:c.C2167G:p.L723V,CAPN3:NM_024344:exon23:c.C2425G:p.L809V,CAPN3:NM_000070:exon24:c.C2443G:p.L815V
UCSC :
chr15-42411750-C-G
OMIM :
CAPN3
dbSNP :
rs773318451
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
-
Clinical significance :
-
SIFT : Deleterious
Polyphen2 HDIV : Possibly Damaging
Polyphen2 HVAR : Possibly damaginig
LRT : Unknown
MutationTaster : Disease Causing
MutationAssessor : Medium
FATHMM : Deleterious
PROVEAN : N
VEST3 score : 0.88
VEST3 rankscore : 0.87
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.781
REVEL rankscore : 0.928
MutPred score : 0.542
MutPred rankscore : 0.655
CADD : 27.9
DANN score : 0.999
DANN rankscore : 0.93
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.57
Eigen PC raw : 0.628
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.461
integrated fitCons score rankscore : 0.09
integrated confidence value : 0
GERP++ RS : 5.05
GERP++_RS rankscore : 0.674
phyloP100way vertebrate : 5.582
phyloP100way vertebrate rankscore : 0.67
phyloP20way mammalian : 0.935
phyloP20way mammalian rankscore : 0.49
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 1
phastCons20way mammalian rankscore : 0.888
SiPhy 29way logOdds : 14.607
SiPhy 29way logOdds rankscore : 0.679
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2040
  • 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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