Chr :
chr16
Position :
23603664
Ref Allele :
A
Alt Allele :
G
AAChange refGene :
PALB2:NM_024675:exon13:c.T3356C:p.L1119P
UCSC :
chr16-23603664-A-G
OMIM :
PALB2
dbSNP :
rs515726116
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified
Clinical significance :
Uncertain_significance
SIFT : Deleterious
Polyphen2 HDIV : Probably Damaging
Polyphen2 HVAR : Probably Damaging
LRT : Neutral
MutationTaster : Disease Causing
MutationAssessor : -
FATHMM : Tolerated
PROVEAN : D
VEST3 score : 0.894
VEST3 rankscore : 0.883
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.465
REVEL rankscore : 0.764
MutPred score : 0.616
MutPred rankscore : 0.75
CADD : 29.4
DANN score : 0.999
DANN rankscore : 0.98
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.743
Eigen PC raw : 0.714
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.707
integrated fitCons score rankscore : 0.73
integrated confidence value : 0
GERP++ RS : 5.59
GERP++_RS rankscore : 0.846
phyloP100way vertebrate : 5.838
phyloP100way vertebrate rankscore : 0.689
phyloP20way mammalian : 1.088
phyloP20way mammalian rankscore : 0.866
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.998
phastCons20way mammalian rankscore : 0.697
SiPhy 29way logOdds : 13.71
SiPhy 29way logOdds rankscore : 0.62
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2048
  • 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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