E89K (p.Glu89Lys) variant of ABCA4 (P78363)

E89K (p.Glu89Lys) in ABCA4 (P78363) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E89K (p.Glu89Lys) variant details