S21* (p.Ser21Ter) variant of SCN8A (Nav1.6)
S21* (p.Ser21Ter) in SCN8A (Nav1.6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- gnomAD 12-51662879-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available