R504H (p.Arg504His) variant of PKLR (Pyruvate kinase PKLR)
R504H (p.Arg504His) 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 0.86 / 1. The record also includes population frequency data and structural context.
R504H (p.Arg504His) variant details
- p.Arg504His
- rs185753709
- 1000Genomes rs185753709
- ExAC rs185753709
- TOPMed rs185753709
- Likely pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.95
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.80
- PolyPhen-2 0.73
- SIFT 0.04
- ClinVar: Likely pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Likely pathogenic (in CNSHA2)
- UniProt: Likely pathogenic (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available