E20* (p.Glu20Ter) variant of SCN8A (Nav1.6)
E20* (p.Glu20Ter) 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.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- rs1555214261
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Ensembl rs1555214261
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available