S57S (p.Ser57Ser) variant of SCN8A (Nav1.6)
S57S (p.Ser57Ser) in SCN8A (Nav1.6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S57S (p.Ser57Ser) variant details
- p.Ser57Ser
- rs748773097
- gnomAD 12-51662988-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available