L52F (p.Leu52Phe) variant of CASQ2 (Calsequestrin-2)

L52F (p.Leu52Phe) 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.

L52F (p.Leu52Phe) variant details