E57* (p.Glu57Ter) variant of SCN2A (Nav1.2)
E57* (p.Glu57Ter) in SCN2A (Nav1.2) is a protein-truncating change. The record also includes structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- Ensembl rs1553564214
- Stop Gained
- Structural context available