K53* (p.Lys53Ter) variant of SCN4A (Nav1.4)
K53* (p.Lys53Ter) in SCN4A (Nav1.4) is a protein-truncating change. The record also includes structural context.
K53* (p.Lys53Ter) variant details
- p.Lys53Ter
- Ensembl rs1555605065
- Stop Gained
- Structural context available