P22T (p.Pro22Thr) variant of CFTR (P13569)
P22T (p.Pro22Thr) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- gnomAD 7-117504263-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.88
- ESM-1b 0.53
- AlphaMissense 0.20
- MetaLR 0.94
- MetaSVM 1.07
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available