Chr :
chr7
Position :
117610591
Ref Allele :
C
Alt Allele :
A
AAChange refGene :
CFTR:NM_000492:exon19:c.C3061A:p.P1021T
UCSC :
chr7-117610591-C-A
OMIM :
CFTR
dbSNP :
rs397508491
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
Cystic_fibrosis
Clinical significance :
Uncertain_significance
SIFT : Deleterious
Polyphen2 HDIV : Probably Damaging
Polyphen2 HVAR : Probably Damaging
LRT : Deleterious
MutationTaster : Disease Causing
MutationAssessor : High
FATHMM : Deleterious
PROVEAN : D
VEST3 score : 0.917
VEST3 rankscore : 0.908
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.777
REVEL rankscore : 0.926
MutPred score : 0.833
MutPred rankscore : 0.942
CADD : 29.3
DANN score : 0.998
DANN rankscore : 0.861
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.992
Eigen PC raw : 0.95
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.638
integrated fitCons score rankscore : 0.428
integrated confidence value : 0
GERP++ RS : 6.16
GERP++_RS rankscore : 0.993
phyloP100way vertebrate : 7.519
phyloP100way vertebrate rankscore : 0.806
phyloP20way mammalian : 0.935
phyloP20way mammalian rankscore : 0.49
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.994
phastCons20way mammalian rankscore : 0.587
SiPhy 29way logOdds : 20.86
SiPhy 29way logOdds rankscore : 0.998
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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