R532Q (p.Arg532Gln) variant of PKLR (Pyruvate kinase PKLR)
R532Q (p.Arg532Gln) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pyruvate kinase deficiency of red cells; not provided. 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.
R532Q (p.Arg532Gln) variant details
- p.Arg532Gln
- rs758278200
- ExAC rs758278200
- TOPMed rs758278200
- gnomAD rs758278200
- Conflicting interpretations
- Pyruvate kinase deficiency of red cells; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Pyruvate kinase deficiency of red cells; not provided)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of… (PMID 9827908)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)