P39H (p.Pro39His) variant of AQP2 (Aquaporin-2)
P39H (p.Pro39His) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P39H (p.Pro39His) variant details
- p.Pro39His
- Ensembl rs1947324124
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available