E44* (p.Glu44Ter) variant of SCN2A (Nav1.2)
E44* (p.Glu44Ter) in SCN2A (Nav1.2) is a protein-truncating change. The record also includes structural context.
E44* (p.Glu44Ter) variant details
- p.Glu44Ter
- Ensembl rs1553564200
- Stop Gained
- Structural context available