E152K (p.Glu152Lys) variant of C9ORF72 (Q96LT7)

E152K (p.Glu152Lys) in C9ORF72 (Q96LT7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E152K (p.Glu152Lys) variant details