E117K (p.Glu117Lys) variant of KCNQ2 (O43526)

E117K (p.Glu117Lys) in KCNQ2 (O43526) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E117K (p.Glu117Lys) variant details