S9Y (p.Ser9Tyr) variant of SLC12A2 (P55011)
S9Y (p.Ser9Tyr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- gnomAD 5-128083980-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.31
- CADD 21.00
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available