P22Q (p.Pro22Gln) variant of CFTR (P13569)
P22Q (p.Pro22Gln) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P22Q (p.Pro22Gln) variant details
- p.Pro22Gln
- gnomAD 7-117504264-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.85
- ESM-1b 0.80
- AlphaMissense 0.31
- MetaLR 0.94
- MetaSVM 1.07
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available