E68Q (p.Glu68Gln) variant of SLC12A3 (P55017)

E68Q (p.Glu68Gln) in SLC12A3 (P55017) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in GTLMNS. The record also includes structural context.

E68Q (p.Glu68Gln) variant details