T27H (p.Thr27His) variant of CASQ2 (Calsequestrin-2)

T27H (p.Thr27His) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

T27H (p.Thr27His) variant details