E132K (p.Glu132Lys) variant of IFT172 (Q9UG01)

E132K (p.Glu132Lys) in IFT172 (Q9UG01) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E132K (p.Glu132Lys) variant details