Chr :
chr11
Position :
102083171
Ref Allele :
A
Alt Allele :
G
AAChange refGene :
C11orf70:NM_032930:exon7:c.A776G:p.H259R
UCSC :
chr11-102083171-A-G
OMIM :
C11orf70
dbSNP :
-
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
Ciliary_dyskinesia,_primary,_38
Clinical significance :
Pathogenic
SIFT : Deleterious
Polyphen2 HDIV : Probably Damaging
Polyphen2 HVAR : Probably Damaging
LRT : Deleterious
MutationTaster : Disease Causing
MutationAssessor : -
FATHMM : -
PROVEAN : D
VEST3 score : 0.972
VEST3 rankscore : 0.973
MetaSVM : Deleterious
MetaLR : Deleterious
M-CAP : D
REVEL score : 0.77
REVEL rankscore : 0.924
MutPred score : 0.85
MutPred rankscore : 0.952
CADD : 23.9
DANN score : 0.997
DANN rankscore : 0.815
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : 0.748
Eigen PC raw : 0.672
GenoCanyon score : 0.966
GenoCanyon score rankscore : 0.288
integrated fitCons score : 0.554
integrated fitCons score rankscore : 0.246
integrated confidence value : 0
GERP++ RS : 5.86
GERP++_RS rankscore : 0.939
phyloP100way vertebrate : 7.446
phyloP100way vertebrate rankscore : 0.795
phyloP20way mammalian : 1.138
phyloP20way mammalian rankscore : 0.885
phastCons100way vertebrate : 1
phastCons100way vertebrate rankscore : 0.715
phastCons20way mammalian : 0.704
phastCons20way mammalian rankscore : 0.31
SiPhy 29way logOdds : 15.914
SiPhy 29way logOdds rankscore : 0.792
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2046
  • 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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