R117H (p.Arg117His) variant of CFTR (P13569)
R117H (p.Arg117His) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R117H (p.Arg117His) variant details
- p.Arg117His
- rs78655421
- ClinGen CA221026
- ClinVar RCV000007528
- ClinVar RCV000007529
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.30
- MetaLR 0.99
- MetaSVM 1.06
- CADD 25.20
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF and CBAVD)
- UniProt: Pathogenic (in CF and CBAVD)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Cited in: Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. (PMID 11242048)
- Cited in: Cystic fibrosis: a further case of an asymptomatic compound heterozygote. (PMID 11746017)