G474E (p.Gly474Glu) variant of F8 (Coagulation factor VIII)
G474E (p.Gly474Glu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G474E (p.Gly474Glu) variant details
- p.Gly474Glu
- rs2073421004
- UniProt VAR 028540
- TOPMed rs2073421004
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage… (PMID 10404764)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)