R57Q (p.Arg57Gln) variant of G6PD (P11413)
R57Q (p.Arg57Gln) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R57Q (p.Arg57Gln) variant details
- p.Arg57Gln
- rs1000937138
- ClinGen CA337318662
- ClinVar RCV002305815
- Ensembl rs1000937138
- Conflicting interpretations
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.69
- CADD 22.30
- PolyPhen-2 0.37
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)