S6F (p.Ser6Phe) variant of AQP2 (Aquaporin-2)
S6F (p.Ser6Phe) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- gnomAD 12-49950847-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.83
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available