S48C (p.Ser48Cys) variant of ABCG5 (Q9H222)

S48C (p.Ser48Cys) in ABCG5 (Q9H222) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

S48C (p.Ser48Cys) variant details