A148V (p.Ala148Val) variant of AQP3 (Aquaporin-3)
A148V (p.Ala148Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A148V (p.Ala148Val) variant details
- p.Ala148Val
- gnomAD 9-33442901-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.41
- MetaLR 0.11
- MetaSVM -1.05
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available