S10F (p.Ser10Phe) variant of AQP2 (Aquaporin-2)
S10F (p.Ser10Phe) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- gnomAD 12-49950859-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.38
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available