S30P (p.Ser30Pro) variant of AQP2 (Aquaporin-2)
S30P (p.Ser30Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 12-49950918-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.85
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available