R117G (p.Arg117Gly) variant of CFTR (P13569)
R117G (p.Arg117Gly) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CFTR-related disorder; Bronchiectasis with or without elevated sweat chloride 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R117G (p.Arg117Gly) variant details
- p.Arg117Gly
- rs77834169
- ClinGen CA327217
- ClinVar RCV000670642
- ClinVar RCV001811327
- Pathogenic/Likely pathogenic
- CFTR-related disorder; Bronchiectasis with or without elevated sweat chloride 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.77
- ESM-1b 0.62
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.06
- CADD 23.80
- ClinVar: Pathogenic/Likely pathogenic (CFTR-related disorder; Bronchiectasis with or without elevated s)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)