R531S (p.Arg531Ser) variant of PKLR (Pyruvate kinase PKLR)
R531S (p.Arg531Ser) 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 record also includes structural context.
R531S (p.Arg531Ser) variant details
- p.Arg531Ser
- rs1674554041
- ClinGen CA342750426
- ClinVar RCV001534615
- Ensembl rs1674554041
- Likely pathogenic
- Pyruvate kinase deficiency of red cells
- Missense
- ClinVar: Likely pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Likely pathogenic (in CNSHA2)
- UniProt: Likely pathogenic (in CNSHA2)
- Structural context available