E89* (p.Glu89Ter) variant of C9ORF72 (Q96LT7)

E89* (p.Glu89Ter) in C9ORF72 (Q96LT7) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E89* (p.Glu89Ter) variant details