S19C (p.Ser19Cys) variant of PKLR (Pyruvate kinase PKLR)
S19C (p.Ser19Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. The record also includes structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- ExAC rs769038526
- gnomAD rs769038526
- Missense
- Structural context available