Chr :
chr16
Position :
3740459
Ref Allele :
A
Alt Allele :
G
AAChange refGene :
CREBBP:NM_001079846:exon23:c.T3959C:p.F1320S,CREBBP:NM_004380:exon24:c.T4073C:p.F1358S
UCSC :
chr16-3740459-A-G
OMIM :
CREBBP
dbSNP :
rs762638591
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
-
Clinical significance :
-
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Deleterious
MutationTaster : Disease Causing
MutationAssessor : Neutral
FATHMM : Deleterious
PROVEAN : N
VEST3 score : 0.34
VEST3 rankscore : 0.461
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.327
REVEL rankscore : 0.653
MutPred score : 0.447
MutPred rankscore : 0.507
CADD : 19.69
DANN score : 0.977
DANN rankscore : 0.35
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : -0.341
Eigen PC raw : -0.068
GenoCanyon score : 1
GenoCanyon score rankscore : 0.462
integrated fitCons score : 0.707
integrated fitCons score rankscore : 0.73
integrated confidence value : 0
GERP++ RS : 5.26
GERP++_RS rankscore : 0.734
phyloP100way vertebrate : 3.85
phyloP100way vertebrate rankscore : 0.554
phyloP20way mammalian : 1.199
phyloP20way mammalian rankscore : 0.96
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.999
phastCons20way mammalian rankscore : 0.75
SiPhy 29way logOdds : 8.085
SiPhy 29way logOdds rankscore : 0.298
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2048
  • 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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