R227W (p.Arg227Trp) variant of G6PD (P11413)
R227W (p.Arg227Trp) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R227W (p.Arg227Trp) variant details
- p.Arg227Trp
- rs1557230213
- ClinGen CA415236708
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD d)
- EBI: Pathogenic (in Mexico City)
- UniProt: Pathogenic (in Mexico City)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)