P69L (p.Pro69Leu) variant of AQP2 (Aquaporin-2)
P69L (p.Pro69Leu) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- gnomAD 12-49951036-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available