A59D (p.Ala59Asp) variant of AQP5 (Aquaporin-5)
A59D (p.Ala59Asp) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A59D (p.Ala59Asp) variant details
- p.Ala59Asp
- gnomAD 12-49962193-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.70
- CADD 22.60
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available