L55P (p.Leu55Pro) variant of AQP2 (Aquaporin-2)
L55P (p.Leu55Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L55P (p.Leu55Pro) variant details
- p.Leu55Pro
- gnomAD 12-49950994-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.92
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available