R504C (p.Arg504Cys) variant of PKLR (Pyruvate kinase PKLR)
R504C (p.Arg504Cys) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Pyruvate kinase deficiency of red cells. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R504C (p.Arg504Cys) variant details
- p.Arg504Cys
- rs967010243
- TOPMed rs967010243
- gnomAD rs967010243
- ClinGen CA30900305
- Conflicting interpretations
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.01
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; 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 2.4e-05)
- Structural context available