A25E (p.Ala25Glu) variant of AQP3 (Aquaporin-3)
A25E (p.Ala25Glu) 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 and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- TOPMed rs1826931533
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- CADD 25.00
- PolyPhen-2 0.68
- SIFT 0.01
- Population evidence available
- Structural context available