S6P (p.Ser6Pro) variant of AQP2 (Aquaporin-2)
S6P (p.Ser6Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- gnomAD 12-49950846-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.78
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available