E43K (p.Glu43Lys) variant of SGCA (Alpha-sarcoglycan)

E43K (p.Glu43Lys) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E43K (p.Glu43Lys) variant details