S16C (p.Ser16Cys) variant of CASQ2 (Calsequestrin-2)

S16C (p.Ser16Cys) 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.

S16C (p.Ser16Cys) variant details