V46L (p.Val46Leu) variant of AQP1 (Aquaporin-1)
V46L (p.Val46Leu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- gnomAD 7-30921737-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 3.39
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available