E123K (p.Glu123Lys) variant of ACVR1 (Activin receptor type-1)

E123K (p.Glu123Lys) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E123K (p.Glu123Lys) variant details