Chr :
chr9
Position :
452071
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
DOCK8:NM_001190458:exon44:c.C5722T:p.R1908X,DOCK8:NM_001193536:exon45:c.C5818T:p.R1940X,DOCK8:NM_203447:exon46:c.C6022T:p.R2008X
UCSC :
chr9-452071-C-T
OMIM :
DOCK8
dbSNP :
-
Gene Function :
exonic
Exonic Function :
stopgain

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

Disease condition(s) :
-
Clinical significance :
-
SIFT : -
Polyphen2 HDIV : -
Polyphen2 HVAR : -
LRT : Deleterious
MutationTaster : Disease Causing Automatic
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 55
DANN score : 0.998
DANN rankscore : 0.906
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.81
Eigen PC raw : 0.673
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 : 4.71
GERP++_RS rankscore : 0.589
phyloP100way vertebrate : 2.555
phyloP100way vertebrate rankscore : 0.453
phyloP20way mammalian : 0.892
phyloP20way mammalian rankscore : 0.403
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.999
phastCons20way mammalian rankscore : 0.75
SiPhy 29way logOdds : 18.217
SiPhy 29way logOdds rankscore : 0.898
IndiGen Frequencies
  • Allele Count :    2
  • Allele Frequency :    0.0010
  • Allele Number :    2046
  • Homozygous :    1
  • Heterozygous :    0
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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