G52D (p.Gly52Asp) variant of PKLR (Pyruvate kinase PKLR)
G52D (p.Gly52Asp) in PKLR (Pyruvate kinase PKLR) is a missense change. The record also includes structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- ExAC rs752093404
- gnomAD rs752093404
- Missense
- Structural context available