R490L (p.Arg490Leu) variant of PKLR (Pyruvate kinase PKLR)
R490L (p.Arg490Leu) 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 Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R490L (p.Arg490Leu) variant details
- p.Arg490Leu
- ExAC rs746257586
- TOPMed rs746257586
- gnomAD rs746257586
- cosmic curated COSV61361
- Likely pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.90
- AlphaMissense 0.46
- MetaLR 0.14
- MetaSVM -0.85
- CADD 24.10
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Variant of uncertain significance (in CNSHA2)
- UniProt: Uncertain significance (in CNSHA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available