E46* (p.Glu46Ter) variant of SCN8A (Nav1.6)
E46* (p.Glu46Ter) in SCN8A (Nav1.6) is a protein-truncating change. The record also includes structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- Ensembl rs1555214285
- Stop Gained
- Structural context available