R504L (p.Arg504Leu) variant of PKLR (Pyruvate kinase PKLR)
R504L (p.Arg504Leu) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R504L (p.Arg504Leu) variant details
- p.Arg504Leu
- rs185753709
- 1000Genomes rs185753709
- ExAC rs185753709
- TOPMed rs185753709
- Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.40
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (PMID 11960989)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)