L21V (p.Leu21Val) variant of AQP2 (Aquaporin-2)
L21V (p.Leu21Val) 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.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- ExAC rs757280714
- TOPMed rs757280714
- gnomAD rs757280714
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.43
- CADD 18.20
- PolyPhen-2 0.41
- SIFT 0.13
- Population evidence available
- Structural context available