E128D (p.Glu128Asp) variant of CASQ2 (Calsequestrin-2)

E128D (p.Glu128Asp) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E128D (p.Glu128Asp) variant details