S9C (p.Ser9Cys) variant of SLC12A2 (P55011)
S9C (p.Ser9Cys) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S9C (p.Ser9Cys) variant details
- p.Ser9Cys
- gnomAD 5-128083980-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.35
- CADD 21.80
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available