K50* (p.Lys50Ter) variant of SCN1A (Nav1.1)
K50* (p.Lys50Ter) in SCN1A (Nav1.1) is a protein-truncating change. The record also includes structural context.
K50* (p.Lys50Ter) variant details
- p.Lys50Ter
- Ensembl rs1553560800
- Stop Gained
- Structural context available