K33* (p.Lys33Ter) variant of SCN1A (Nav1.1)
K33* (p.Lys33Ter) 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.
K33* (p.Lys33Ter) variant details
- p.Lys33Ter
- ESP rs375913842
- TOPMed rs375913842
- gnomAD rs375913842
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available