R57W (p.Arg57Trp) variant of G6PD (P11413)
R57W (p.Arg57Trp) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R57W (p.Arg57Trp) variant details
- p.Arg57Trp
- rs2070404778
- ClinGen CA415239980
- ClinVar RCV003509093
- Ensembl rs2070404778
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.93
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)