Q40* (p.Gln40Ter) variant of SCN4A (Nav1.4)
Q40* (p.Gln40Ter) in SCN4A (Nav1.4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- rs2509325722
- ClinGen CA400640440
- ClinVar RCV004528763
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available