S30C (p.Ser30Cys) variant of AQP2 (Aquaporin-2)
S30C (p.Ser30Cys) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- gnomAD 12-49950919-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.80
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available