R393H (p.Arg393His) variant of G6PD (P11413)
R393H (p.Arg393His) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
R393H (p.Arg393His) variant details
- p.Arg393His
- rs137852316
- ClinGen CA120959
- ClinVar RCV000011090
- ClinVar RCV000030890
- Pathogenic
- not provided; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.80
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (not provided; Anemia, nonspherocytic hemolytic, due to G6PD defi)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available
- Cited in: Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P… (PMID 1536798)
- Cited in: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. (PMID 1978554)