E82* (p.Glu82Ter) variant of SCN8A (Nav1.6)
E82* (p.Glu82Ter) in SCN8A (Nav1.6) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E82* (p.Glu82Ter) variant details
- p.Glu82Ter
- rs1555214322
- NCI-TCGA Cosmic COSV6198
- cosmic curated COSV61989
- Ensembl rs1555214322
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available