E139* (p.Glu139Ter) variant of ATP13A2 (Q9NQ11)

E139* (p.Glu139Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E139* (p.Glu139Ter) variant details