L76Q (p.Leu76Gln) variant of PKLR (Pyruvate kinase PKLR)

L76Q (p.Leu76Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

L76Q (p.Leu76Gln) variant details