E46K (p.Glu46Lys) variant of SCN4A (Nav1.4)

E46K (p.Glu46Lys) in SCN4A (Nav1.4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E46K (p.Glu46Lys) variant details