E4D (p.Glu4Asp) variant of AQP5 (Aquaporin-5)
E4D (p.Glu4Asp) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 12-49962029-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.41
- CADD 20.60
- PolyPhen-2 0.11
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available