L22P (p.Leu22Pro) variant of AQP5 (Aquaporin-5)
L22P (p.Leu22Pro) in AQP5 (Aquaporin-5) 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.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 12-49962082-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.83
- CADD 19.10
- PolyPhen-2 0.41
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available