Chr :
chr16
Position :
88810517
Ref Allele :
G
Alt Allele :
A
AAChange refGene :
APRT:NM_000485:exon3:c.C227T:p.A76V,APRT:NM_001030018:exon3:c.C227T:p.A76V
UCSC :
chr16-88810517-G-A
OMIM :
APRT
dbSNP :
-
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 : Probably Damaging
Polyphen2 HVAR : Probably Damaging
LRT : Deleterious
MutationTaster : Disease Causing
MutationAssessor : High
FATHMM : Deleterious
PROVEAN : D
VEST3 score : 0.615
VEST3 rankscore : 0.654
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.937
REVEL rankscore : 0.986
MutPred score : 0.869
MutPred rankscore : 0.963
CADD : 28.8
DANN score : 0.999
DANN rankscore : 0.967
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.834
Eigen PC raw : 0.676
GenoCanyon score : 1
GenoCanyon score rankscore : 0.983
integrated fitCons score : 0.714
integrated fitCons score rankscore : 0.819
integrated confidence value : 0
GERP++ RS : 4.28
GERP++_RS rankscore : 0.5
phyloP100way vertebrate : 5.995
phyloP100way vertebrate rankscore : 0.701
phyloP20way mammalian : 0.998
phyloP20way mammalian rankscore : 0.613
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.833
phastCons20way mammalian rankscore : 0.348
SiPhy 29way logOdds : 16.552
SiPhy 29way logOdds rankscore : 0.843
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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