E59G (p.Glu59Gly) variant of PMS1 (PMS1 protein homolog 1)

E59G (p.Glu59Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes experimental measurements and structural context.

E59G (p.Glu59Gly) variant details