R198H (p.Arg198His) variant of G6PD (P11413)
R198H (p.Arg198His) 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; Malar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R198H (p.Arg198His) variant details
- p.Arg198His
- rs137852332
- ClinGen CA121057
- ClinVar RCV000011161
- ClinVar RCV000991014
- Pathogenic/Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD deficiency; Malar
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.94
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency; G6PD d)
- EBI: Pathogenic (in Nilgiris)
- UniProt: Pathogenic (in Nilgiris)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern… (PMID 18043863)
- Cited in: Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo… (PMID 29333274)