P22S (p.Pro22Ser) variant of CFTR (P13569)
P22S (p.Pro22Ser) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- gnomAD 7-117504263-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.92
- MetaSVM 1.00
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available