F587I (p.Phe587Ile) variant of CFTR (P13569)
F587I (p.Phe587Ile) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cystic fibrosis; CFTR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F587I (p.Phe587Ile) variant details
- p.Phe587Ile
- rs767349773
- ClinGen CA4451075
- ClinVar RCV002407590
- ExAC rs767349773
- Conflicting interpretations
- Cystic fibrosis; CFTR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Cystic fibrosis; CFTR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)