L55* (p.Leu55Ter) variant of SCN1A (Nav1.1)
L55* (p.Leu55Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
L55* (p.Leu55Ter) variant details
- p.Leu55Ter
- Ensembl rs1553560791
- Stop Gained
- Structural context available