R198C (p.Arg198Cys) variant of G6PD (P11413)
R198C (p.Arg198Cys) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R198C (p.Arg198Cys) variant details
- p.Arg198Cys
- rs137852330
- ClinGen CA120998
- ClinVar RCV000011126
- ClinVar RCV000011127
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency; Malaria, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.99
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.93
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in Coimbra)
- UniProt: Pathogenic (in Coimbra)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme… (PMID 1353664)
- Cited in: Molecular heterogeneity underlying the G6PD Mediterranean phenotype. (PMID 1551674)