G275R (p.Gly275Arg) variant of PKLR (Pyruvate kinase PKLR)
G275R (p.Gly275Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G275R (p.Gly275Arg) variant details
- p.Gly275Arg
- rs747549978
- ClinGen CA1144200
- ClinVar RCV003447748
- UniProt VAR 004035
- Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.95
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mutations in pyruvate kinase. (PMID 8664896)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)