Chr :
chr3
Position :
33068831
Ref Allele :
C
Alt Allele :
G
AAChange refGene :
GLB1:NM_000404:exon3:c.G385C:p.E129Q,GLB1:NM_001079811:exon3:c.G295C:p.E99Q,GLB1:NM_001317040:exon4:c.G529C:p.E177Q
UCSC :
chr3-33068831-C-G
OMIM :
GLB1
dbSNP :
rs886042079
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 : 0.543
VEST3 rankscore : 0.701
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.894
REVEL rankscore : 0.97
MutPred score : 0.915
MutPred rankscore : 0.984
CADD : 27.9
DANN score : 0.997
DANN rankscore : 0.831
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.92
Eigen PC raw : 0.745
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.706
integrated fitCons score rankscore : 0.609
integrated confidence value : 0
GERP++ RS : 3.96
GERP++_RS rankscore : 0.449
phyloP100way vertebrate : 7.83
phyloP100way vertebrate rankscore : 0.848
phyloP20way mammalian : 0.852
phyloP20way mammalian rankscore : 0.362
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.976
phastCons20way mammalian rankscore : 0.476
SiPhy 29way logOdds : 15.804
SiPhy 29way logOdds rankscore : 0.782
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2052
  • 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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