E82K (p.Glu82Lys) variant of PAX6 (Paired box protein Pax-6)

E82K (p.Glu82Lys) in PAX6 (Paired box protein Pax-6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E82K (p.Glu82Lys) variant details