R117P (p.Arg117Pro) variant of CFTR (P13569)
R117P (p.Arg117Pro) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R117P (p.Arg117Pro) variant details
- p.Arg117Pro
- rs78655421
- ClinGen CA327221
- ClinVar RCV000577567
- ClinVar RCV001563129
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.79
- ESM-1b 0.00
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.08
- CADD 23.90
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in CF)
- UniProt: Pathogenic (in CF)
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Cited in: Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients. (PMID 9452048)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)