F191V (p.Phe191Val) variant of CFTR (P13569)
F191V (p.Phe191Val) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
F191V (p.Phe191Val) variant details
- p.Phe191Val
- rs141482808
- ClinGen CA4450757
- ClinVar RCV000587145
- ClinVar RCV000757856
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.78
- MetaSVM 0.73
- CADD 27.10
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)