L84* (p.Leu84Ter) variant of ATP7A (Copper-transporting ATPase 1)

L84* (p.Leu84Ter) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

L84* (p.Leu84Ter) variant details