E48* (p.Glu48Ter) variant of SCN1B (Q07699)
E48* (p.Glu48Ter) in SCN1B (Q07699) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E48* (p.Glu48Ter) variant details
- p.Glu48Ter
- gnomAD rs1293015271
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available