Y83* (p.Tyr83Ter) variant of SCN1A (Nav1.1)

Name: SCN1A Y83* (p.Tyr83Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-09
License: https://catvariant.com/terms-of-use

Y83* (p.Tyr83Ter) in SCN1A (Nav1.1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Y83* (p.Tyr83Ter) variant details

p.Tyr83Ter
rs863225031
ClinGen CA325464
ClinVar RCV000201161
ClinVar RCV006555663
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
Cited in: SCN1A Seizure Disorders. (PMID 20301494)