Chr :
chr5
Position :
148123905
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
SPINK5:NM_001127698:exon27:c.C2611T:p.R871X,SPINK5:NM_001127699:exon27:c.C2611T:p.R871X,SPINK5:NM_006846:exon27:c.C2611T:p.R871X
UCSC :
chr5-148123905-C-T
OMIM :
SPINK5
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 : Neutral
MutationTaster : Disease Causing Automatic
MutationAssessor : -
FATHMM : -
PROVEAN : -
VEST3 score : -
VEST3 rankscore : -
MetaSVM : -
MetaLR : -
M-CAP : -
REVEL score : -
REVEL rankscore : -
MutPred score : -
MutPred rankscore : -
CADD : 39
DANN score : 0.996
DANN rankscore : 0.768
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : 0.528
Eigen PC raw : 0.261
GenoCanyon score : 0.038
GenoCanyon score rankscore : 0.144
integrated fitCons score : 0.615
integrated fitCons score rankscore : 0.372
integrated confidence value : 0
GERP++ RS : 3.48
GERP++_RS rankscore : 0.388
phyloP100way vertebrate : 2.774
phyloP100way vertebrate rankscore : 0.471
phyloP20way mammalian : 0.892
phyloP20way mammalian rankscore : 0.403
phastCons100way vertebrate : 0.999
phastCons100way vertebrate rankscore : 0.424
phastCons20way mammalian : 0.305
phastCons20way mammalian rankscore : 0.238
SiPhy 29way logOdds : 9.734
SiPhy 29way logOdds rankscore : 0.394
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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