F16S (p.Phe16Ser) variant of CFTR (P13569)
F16S (p.Phe16Ser) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F16S (p.Phe16Ser) variant details
- p.Phe16Ser
- gnomAD 7-117480141-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.52
- MetaSVM -0.21
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available