Chr :
chr4
Position :
169406633
Ref Allele :
C
Alt Allele :
A
AAChange refGene :
NEK1:NM_001199399:exon29:c.G3046T:p.E1016X,NEK1:NM_001199400:exon29:c.G3121T:p.E1041X,NEK1:NM_012224:exon30:c.G3253T:p.E1085X,NEK1:NM_001199398:exon31:c.G3205T:p.E1069X,NEK1:NM_001199397:exon32:c.G3337T:p.E1113X
UCSC :
chr4-169406633-C-A
OMIM :
NEK1
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 : 43
DANN score : 0.998
DANN rankscore : 0.847
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 1.004
Eigen PC raw : 0.825
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.615
integrated fitCons score rankscore : 0.372
integrated confidence value : 0
GERP++ RS : 4.88
GERP++_RS rankscore : 0.63
phyloP100way vertebrate : 6.37
phyloP100way vertebrate rankscore : 0.729
phyloP20way mammalian : 0.874
phyloP20way mammalian rankscore : 0.381
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.87
phastCons20way mammalian rankscore : 0.364
SiPhy 29way logOdds : 18.383
SiPhy 29way logOdds rankscore : 0.904
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2044
  • 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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