F17L (p.Phe17Leu) variant of CFTR (P13569)
F17L (p.Phe17Leu) 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 0.67 / 1. The record also includes population frequency data and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- TOPMed rs1797978780
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.80
- ESM-1b 0.01
- AlphaMissense 0.96
- MetaLR 0.72
- MetaSVM 0.53
- CADD 25.60
- ClinVar: Uncertain significance (Cystic fibrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available