E125D (p.Glu125Asp) variant of PKLR (Pyruvate kinase PKLR)
E125D (p.Glu125Asp) in PKLR (Pyruvate kinase PKLR) is a missense change. The record also includes structural context.
E125D (p.Glu125Asp) variant details
- p.Glu125Asp
- TOPMed rs1260433542
- Missense
- Structural context available