E51* (p.Glu51Ter) variant of SCN4A (Nav1.4)
E51* (p.Glu51Ter) in SCN4A (Nav1.4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- ExAC rs751390409
- TOPMed rs751390409
- gnomAD rs751390409
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available