C138A (p.Cys138Ala) variant of GYS2 (P54840)

C138A (p.Cys138Ala) in GYS2 (P54840) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

C138A (p.Cys138Ala) variant details