L38V (p.Leu38Val) variant of AQP2 (Aquaporin-2)
L38V (p.Leu38Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- gnomAD 12-49950942-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.04
- CADD 8.19
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available