P62L (p.Pro62Leu) variant of AQP5 (Aquaporin-5)
P62L (p.Pro62Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P62L (p.Pro62Leu) variant details
- p.Pro62Leu
- gnomAD 12-49962202-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.42
- CADD 15.30
- PolyPhen-2 0.08
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available