R117L (p.Arg117Leu) variant of CFTR (P13569)
R117L (p.Arg117Leu) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R117L (p.Arg117Leu) variant details
- p.Arg117Leu
- rs78655421
- ClinGen CA327222
- ClinVar RCV000577295
- ClinVar RCV000985692
- Likely pathogenic
- CFTR-related disorder; Bronchiectasis with or without elevated sweat chloride 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.68
- MetaLR 0.98
- MetaSVM 1.09
- CADD 23.70
- ClinVar: Likely pathogenic (CFTR-related disorder)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Cited in: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. (PMID 7541510)
- Cited in: Cystic Fibrosis. (PMID 20301428)