K18E (p.Lys18Glu) variant of PKLR (Pyruvate kinase PKLR)
K18E (p.Lys18Glu) in PKLR (Pyruvate kinase PKLR) is a missense change. The record also includes structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- ExAC rs781610938
- gnomAD rs781610938
- Missense
- Structural context available