E136* (p.Glu136Ter) variant of PKLR (Pyruvate kinase PKLR)

E136* (p.Glu136Ter) in PKLR (Pyruvate kinase PKLR) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

E136* (p.Glu136Ter) variant details