G37E (p.Gly37Glu) variant of PKLR (Pyruvate kinase PKLR)
G37E (p.Gly37Glu) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as affects in the context of Pyruvate kinase hyperactivity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- rs118204087
- ClinGen CA115036
- ClinVar RCV000001576
- UniProt VAR 011435
- Affects
- Pyruvate kinase hyperactivity
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.64
- CADD 19.70
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Affects (Pyruvate kinase hyperactivity)
- EBI: Pathogenic (in PKHYP)
- UniProt: Pathogenic (in PKHYP)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Hereditary high ATP content of human erythrocytes. (PMID 4160306)
- Cited in: Mutations in pyruvate kinase. (PMID 8664896)