A85V (p.Ala85Val) variant of AQP3 (Aquaporin-3)
A85V (p.Ala85Val) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- gnomAD rs1464221016
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.61
- CADD 31.00
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available