D43R (p.Asp43Arg) variant of SCN1A (Nav1.1)
D43R (p.Asp43Arg) in SCN1A (Nav1.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
D43R (p.Asp43Arg) variant details
- p.Asp43Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- UniProt: Variant assessed as somatic; high impact.
- Structural context available