A148T (p.Ala148Thr) variant of AQP3 (Aquaporin-3)
A148T (p.Ala148Thr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A148T (p.Ala148Thr) variant details
- p.Ala148Thr
- gnomAD 9-33442902-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.18
- CADD 24.10
- PolyPhen-2 0.47
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available