E42* (p.Glu42Ter) variant of ITPR2 (Q14571)

E42* (p.Glu42Ter) in ITPR2 (Q14571) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E42* (p.Glu42Ter) variant details