R510Q (p.Arg510Gln) variant of PKLR (Pyruvate kinase PKLR)
R510Q (p.Arg510Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital anemia; not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R510Q (p.Arg510Gln) variant details
- p.Arg510Gln
- rs113403872
- 1000Genomes rs113403872
- ESP rs113403872
- ExAC rs113403872
- Pathogenic
- Congenital anemia; not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Congenital anemia; not provided; Pyruvate kinase deficiency of r)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing… (PMID 11698298)
- Cited in: Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. (PMID 7706479)