Chr :
chr17
Position :
7675134
Ref Allele :
T
Alt Allele :
C
AAChange refGene :
TP53:NM_001126115:exon1:c.A82G:p.M28V,TP53:NM_001126116:exon1:c.A82G:p.M28V,TP53:NM_001126117:exon1:c.A82G:p.M28V,TP53:NM_001276697:exon1:c.A1G:p.M1V,TP53:NM_001276698:exon1:c.A1G:p.M1V,TP53:NM_001276699:exon1:c.A1G:p.M1V,TP53:NM_001126118:exon4:c.A361G:p.M121V,TP53:NM_000546:exon5:c.A478G:p.M160V,TP53:NM_001126112:exon5:c.A478G:p.M160V,TP53:NM_001126113:exon5:c.A478G:p.M160V,TP53:NM_001126114:exon5:c.A478G:p.M160V,TP53:NM_001276695:exon5:c.A361G:p.M121V,TP53:NM_001276696:exon5:c.A361G:p.M121V,TP53:NM_001276760:exon5:c.A361G:p.M121V,TP53:NM_001276761:exon5:c.A361G:p.M121V
UCSC :
chr17-7675134-T-C
OMIM :
TP53
dbSNP :
-
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
Hereditary_cancer-predisposing_syndrome|not_provided
Clinical significance :
Conflicting_interpretations_of_pathogenicity
SIFT : Deleterious
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Disease Causing
MutationAssessor : Medium
FATHMM : Deleterious
PROVEAN : N
VEST3 score : 0.535
VEST3 rankscore : 0.728
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.689
REVEL rankscore : 0.888
MutPred score : 0.71
MutPred rankscore : 0.846
CADD : 17.69
DANN score : 0.947
DANN rankscore : 0.248
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : -0.127
Eigen PC raw : -0.083
GenoCanyon score : 0.993
GenoCanyon score rankscore : 0.329
integrated fitCons score : 0.722
integrated fitCons score rankscore : 0.854
integrated confidence value : 0
GERP++ RS : 3.29
GERP++_RS rankscore : 0.366
phyloP100way vertebrate : 4.258
phyloP100way vertebrate rankscore : 0.584
phyloP20way mammalian : 0.146
phyloP20way mammalian rankscore : 0.234
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.65
phastCons20way mammalian rankscore : 0.298
SiPhy 29way logOdds : 7.466
SiPhy 29way logOdds rankscore : 0.263
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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