R532P (p.Arg532Pro) variant of PKLR (Pyruvate kinase PKLR)
R532P (p.Arg532Pro) 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 record also includes structural context.
R532P (p.Arg532Pro) variant details
- p.Arg532Pro
- rs758278200
- ClinGen CA342750396
- ClinVar RCV001895024
- ClinVar RCV006635553
- Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- ClinVar: Likely pathogenic (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Likely pathogenic (in CNSHA2)
- UniProt: Likely pathogenic (in CNSHA2)
- Structural context available