K54* (p.Lys54Ter) variant of SCN8A (Nav1.6)
K54* (p.Lys54Ter) in SCN8A (Nav1.6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K54* (p.Lys54Ter) variant details
- p.Lys54Ter
- ExAC rs755721954
- gnomAD rs755721954
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available