Chr :
chr13
Position :
32332902
Ref Allele :
A
Alt Allele :
G
AAChange refGene :
BRCA2:NM_000059:exon10:c.A1424G:p.E475G
UCSC :
chr13-32332902-A-G
OMIM :
BRCA2
dbSNP :
-
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
-
Clinical significance :
-
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Low
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.456
VEST3 rankscore : 0.634
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : T
REVEL score : 0.244
REVEL rankscore : 0.555
MutPred score : 0.368
MutPred rankscore : 0.378
CADD : 3.029
DANN score : 0.993
DANN rankscore : 0.591
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -1.006
Eigen PC raw : -1.075
GenoCanyon score : 0.995
GenoCanyon score rankscore : 0.337
integrated fitCons score : 0.651
integrated fitCons score rankscore : 0.465
integrated confidence value : 0
GERP++ RS : -2.67
GERP++_RS rankscore : 0.057
phyloP100way vertebrate : 0.233
phyloP100way vertebrate rankscore : 0.176
phyloP20way mammalian : 1.199
phyloP20way mammalian rankscore : 0.96
phastCons100way vertebrate : 0
phastCons100way vertebrate rankscore : 0.063
phastCons20way mammalian : 0.242
phastCons20way mammalian rankscore : 0.226
SiPhy 29way logOdds : 1.504
SiPhy 29way logOdds rankscore : 0.023
IndiGen Frequencies
  • Allele Count :    2
  • Allele Frequency :    0.0010
  • Allele Number :    2052
  • Homozygous :    0
  • Heterozygous :    2
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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