R227G (p.Arg227Gly) variant of G6PD (P11413)
R227G (p.Arg227Gly) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici. The record also includes structural context.
R227G (p.Arg227Gly) variant details
- p.Arg227Gly
- TOPMed rs1557230213
- gnomAD rs1557230213
- Likely pathogenic
- Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici
- Missense
- ClinVar: Likely pathogenic (Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, du)
- EBI: Pathogenic (in Mexico City)
- UniProt: Pathogenic (in Mexico City)
- Structural context available