R227Q (p.Arg227Gln) variant of G6PD (P11413)
R227Q (p.Arg227Gln) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R227Q (p.Arg227Gln) variant details
- p.Arg227Gln
- rs137852328
- ClinGen CA121004
- ClinVar RCV000011131
- ClinVar RCV001000765
- Conflicting interpretations
- not specified; Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD de
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.87
- CADD 23.80
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Anemia, nonspherocytic hemolytic, due to G6PD def)
- EBI: Pathogenic (in Mexico City)
- UniProt: Pathogenic (in Mexico City)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. (PMID 1611091)
- Cited in: Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. (PMID 6344088)