G50V (p.Gly50Val) variant of AQP5 (Aquaporin-5)
G50V (p.Gly50Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- gnomAD 12-49962166-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.71
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available