R479H (p.Arg479His) variant of PKLR (Pyruvate kinase PKLR)
R479H (p.Arg479His) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R479H (p.Arg479His) variant details
- p.Arg479His
- rs118204085
- ESP rs118204085
- ExAC rs118204085
- TOPMed rs118204085
- Pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.05
- CADD 34.00
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available
- Cited in: Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (PMID 11960989)
- Cited in: Hereditary non-spherocytic hemolytic anemia of the pyruvate-kinase deficient type. (PMID 14014643)