E31K (p.Glu31Lys) variant of ABCG8 (Q9H221)

E31K (p.Glu31Lys) in ABCG8 (Q9H221) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E31K (p.Glu31Lys) variant details