R387H (p.Arg387His) variant of G6PD (P11413)
R387H (p.Arg387His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R387H (p.Arg387His) variant details
- p.Arg387His
- rs137852321
- ClinGen CA120970
- ClinVar RCV000011100
- ClinVar RCV001857328
- Pathogenic
- Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, du)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of… (PMID 2602358)
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)