F17V (p.Phe17Val) variant of CFTR (P13569)
F17V (p.Phe17Val) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
F17V (p.Phe17Val) variant details
- p.Phe17Val
- ExAC rs779256353
- TOPMed rs779256353
- gnomAD rs779256353
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.77
- MetaSVM 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available