S80P (p.Ser80Pro) variant of PKLR (Pyruvate kinase PKLR)
S80P (p.Ser80Pro) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CNSHA2. The record also includes published literature and structural context.
S80P (p.Ser80Pro) variant details
- p.Ser80Pro
- UniProt VAR 011436
- Pathogenic
- in CNSHA2
- Missense
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Structural context available
- Cited in: Hematologically important mutations: red cell pyruvate kinase. (PMID 8807089)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)