V5L (p.Val5Leu) variant of AQP5 (Aquaporin-5)
V5L (p.Val5Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- TOPMed rs1947428790
- gnomAD rs1947428790
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.27
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available