R454H (p.Arg454His) variant of G6PD (P11413)
R454H (p.Arg454His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R454H (p.Arg454His) variant details
- p.Arg454His
- rs137852324
- ClinGen CA120976
- ClinVar RCV000011103
- ClinVar RCV002305431
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.94
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD… (PMID 2393028)
- Cited in: Severe-glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte… (PMID 7055648)