R531C (p.Arg531Cys) variant of PKLR (Pyruvate kinase PKLR)
R531C (p.Arg531Cys) 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 Pyruvate kinase deficiency of red cells; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R531C (p.Arg531Cys) variant details
- p.Arg531Cys
- rs1674554041
- ClinGen CA342750424
- NCI-TCGA Cosmic COSV6136
- cosmic curated COSV61360
- Conflicting interpretations
- Pyruvate kinase deficiency of red cells; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.72
- MetaLR 0.94
- MetaSVM 1.05
- CADD 25.10
- PolyPhen-2 0.69
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Pyruvate kinase deficiency of red cells; not provided)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (Third update). (PMID 10772876)