R486W (p.Arg486Trp) variant of PKLR (Pyruvate kinase PKLR)
R486W (p.Arg486Trp) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Pyruvate kinase hyperactivity; Pyruvate kinase deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R486W (p.Arg486Trp) variant details
- p.Arg486Trp
- rs116100695
- 1000Genomes rs116100695
- ESP rs116100695
- ExAC rs116100695
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Pyruvate kinase hyperactivity; Pyruvate kinase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.04
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Pyruvate kinase hyperactivity; Pyruvate)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the HGDP:MAYA population (allele frequency 0.053)
- Structural context available
- Cited in: Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients. (PMID 11328279)
- Cited in: Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia. (PMID 11960989)