E16G (p.Glu16Gly) variant of AQP2 (Aquaporin-2)
E16G (p.Glu16Gly) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD 12-49950877-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.92
- CADD 29.70
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available