C16* (p.Cys16Ter) variant of SCN4A (Nav1.4)
C16* (p.Cys16Ter) in SCN4A (Nav1.4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C16* (p.Cys16Ter) variant details
- p.Cys16Ter
- ExAC rs765207978
- TOPMed rs765207978
- gnomAD rs765207978
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available