F508C (p.Phe508Cys) variant of CFTR (P13569)
F508C (p.Phe508Cys) 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.
F508C (p.Phe508Cys) variant details
- p.Phe508Cys
- rs74571530
- ClinGen CA146695
- ClinVar RCV000007546
- ClinVar RCV000078978
- Pathogenic
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.82
- MetaSVM 0.78
- CADD 29.10
- ClinVar: Pathogenic (Cystic fibrosis)
- EBI: Pathogenic (in dbSNP:rs74571530)
- UniProt: Pathogenic (in dbSNP:rs74571530)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis… (PMID 1379210)
- Cited in: Benign missense variations in the cystic fibrosis gene. (PMID 1977306)