S45Y (p.Ser45Tyr) variant of CFTR (P13569)
S45Y (p.Ser45Tyr) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S45Y (p.Ser45Tyr) variant details
- p.Ser45Tyr
- gnomAD 7-117504333-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.85
- MetaSVM 0.83
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available