S2* (p.Ser2Ter) variant of SLC12A1 (Q13621)
S2* (p.Ser2Ter) in SLC12A1 (Q13621) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- gnomAD 15-48207724-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available