S23* (p.Ser23Ter) variant of SLC12A2 (P55011)
S23* (p.Ser23Ter) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S23* (p.Ser23Ter) variant details
- p.Ser23Ter
- gnomAD 5-128084022-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available