V137A (p.Val137Ala) variant of AQP3 (Aquaporin-3)
V137A (p.Val137Ala) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V137A (p.Val137Ala) variant details
- p.Val137Ala
- gnomAD 9-33442934-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.33
- MetaLR 0.08
- MetaSVM -1.10
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available