R257G (p.Arg257Gly) variant of G6PD (P11413)
R257G (p.Arg257Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
R257G (p.Arg257Gly) variant details
- p.Arg257Gly
- rs2070375134
- ClinGen CA415236173
- ClinVar RCV001348562
- Ensembl rs2070375134
- Likely pathogenic
- Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 0.98
- SIFT 0.02
- MutPred 0.97
- ClinVar: Likely pathogenic (Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, du)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune'. (PMID 1805484)
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)