G61V (p.Gly61Val) variant of AQP5 (Aquaporin-5)
G61V (p.Gly61Val) in AQP5 (Aquaporin-5) 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.
G61V (p.Gly61Val) variant details
- p.Gly61Val
- gnomAD 12-49962199-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.87
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available