A148S (p.Ala148Ser) variant of AQP3 (Aquaporin-3)
A148S (p.Ala148Ser) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A148S (p.Ala148Ser) variant details
- p.Ala148Ser
- gnomAD 9-33442902-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.17
- CADD 23.70
- PolyPhen-2 0.87
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available