L22V (p.Leu22Val) variant of AQP3 (Aquaporin-3)
L22V (p.Leu22Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- ExAC rs768201326
- gnomAD rs768201326
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.21
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.80
- Population evidence available
- Structural context available