A65P (p.Ala65Pro) variant of AQP2 (Aquaporin-2)
A65P (p.Ala65Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- 1000Genomes rs544999593
- ExAC rs544999593
- gnomAD rs544999593
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.86
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available