E46* (p.Glu46Ter) variant of SCN1A (Nav1.1)
E46* (p.Glu46Ter) in SCN1A (Nav1.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- ExAC rs769582667
- TOPMed rs769582667
- gnomAD rs769582667
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available