S123C (p.Ser123Cys) variant of PKLR (Pyruvate kinase PKLR)
S123C (p.Ser123Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The record also includes structural context.
S123C (p.Ser123Cys) variant details
- p.Ser123Cys
- ExAC rs756428691
- gnomAD rs756428691
- Missense
- Structural context available