A19S (p.Ala19Ser) variant of AQP2 (Aquaporin-2)
A19S (p.Ala19Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 12-49950885-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.60
- CADD 24.30
- PolyPhen-2 0.81
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available