E12* (p.Glu12Ter) variant of ATP7B (Copper-transporting ATPase 2)

E12* (p.Glu12Ter) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E12* (p.Glu12Ter) variant details