Chr :
chr11
Position :
71444162
Ref Allele :
G
Alt Allele :
A
AAChange refGene :
DHCR7:NM_001163817:exon4:c.C152T:p.P51L,DHCR7:NM_001360:exon4:c.C152T:p.P51L
UCSC :
chr11-71444162-G-A
OMIM :
DHCR7
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 : 0.935
VEST3 rankscore : 0.95
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.958
REVEL rankscore : 0.993
MutPred score : 0.85
MutPred rankscore : 0.952
CADD : 25
DANN score : 0.998
DANN rankscore : 0.867
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.644
Eigen PC raw : 0.478
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 : 4.49
GERP++_RS rankscore : 0.54
phyloP100way vertebrate : 8.309
phyloP100way vertebrate rankscore : 0.898
phyloP20way mammalian : 1.048
phyloP20way mammalian rankscore : 0.713
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.117
phastCons20way mammalian rankscore : 0.195
SiPhy 29way logOdds : 15.047
SiPhy 29way logOdds rankscore : 0.714
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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