I127V (p.Ile127Val) variant of AQP3 (Aquaporin-3)
I127V (p.Ile127Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- gnomAD 9-33442965-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.24
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available