E4D (p.Glu4Asp) variant of AQP1 (Aquaporin-1)
E4D (p.Glu4Asp) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 7-30921631-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 7.36
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available