S130Y (p.Ser130Tyr) variant of PKLR (Pyruvate kinase PKLR)
S130Y (p.Ser130Tyr) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
S130Y (p.Ser130Tyr) variant details
- p.Ser130Tyr
- rs118204089
- TOPMed rs118204089
- ClinGen CA215081
- ClinVar RCV000001578
- Pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.68
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.84
- ClinVar: Pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Structural context available
- Cited in: A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an… (PMID 9886305)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)