V137D (p.Val137Asp) variant of AQP3 (Aquaporin-3)
V137D (p.Val137Asp) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V137D (p.Val137Asp) variant details
- p.Val137Asp
- gnomAD 9-33442934-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.53
- AlphaMissense 0.38
- MetaLR 0.01
- MetaSVM -0.95
- CADD 25.90
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available