Y87* (p.Tyr87Ter) variant of SCN8A (Q9UQD0)
Y87* (p.Tyr87Ter) in SCN8A (Q9UQD0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
Y87* (p.Tyr87Ter) variant details
- p.Tyr87Ter
- rs1484586967
- ClinGen CA385228549
- ClinVar RCV000782050
- TOPMed rs1484586967
- Likely benign
- Stop Gained
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available