P22L (p.Pro22Leu) variant of CFTR (P13569)
P22L (p.Pro22Leu) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- gnomAD 7-117504264-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.40
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available