M69L (p.Met69Leu) variant of PMS1 (PMS1 protein homolog 1)

M69L (p.Met69Leu) 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 structural context.

M69L (p.Met69Leu) variant details