G111R (p.Gly111Arg) variant of PKLR (Pyruvate kinase PKLR)
G111R (p.Gly111Arg) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G111R (p.Gly111Arg) variant details
- p.Gly111Arg
- rs918627824
- ClinGen CA30904892
- ClinVar RCV000625798
- ClinVar RCV003488737
- Pathogenic/Likely pathogenic
- not provided; Pyruvate kinase deficiency of red cells
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 29.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pyruvate kinase deficiency of red cells)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid… (PMID 19085939)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)