G49D (p.Gly49Asp) variant of AQP2 (Aquaporin-2)
G49D (p.Gly49Asp) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- gnomAD 12-49950976-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.89
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available