A65V (p.Ala65Val) variant of AQP2 (Aquaporin-2)
A65V (p.Ala65Val) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- TOPMed rs147174725
- gnomAD rs147174725
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.81
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available