R532W (p.Arg532Trp) variant of PKLR (Pyruvate kinase PKLR)
R532W (p.Arg532Trp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PKLR-related disorder; not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R532W (p.Arg532Trp) variant details
- p.Arg532Trp
- rs201255024
- ExAC rs201255024
- gnomAD rs201255024
- ClinGen CA1143964
- Pathogenic
- PKLR-related disorder; not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.20
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Pathogenic (PKLR-related disorder; not provided; Pyruvate kinase deficiency)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (PMID 11960989)
- Cited in: Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. (PMID 8180378)