L33P (p.Leu33Pro) variant of AQP5 (Aquaporin-5)
L33P (p.Leu33Pro) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- gnomAD 12-49962115-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.89
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available