E200G (p.Glu200Gly) variant of F8 (Coagulation factor VIII)
E200G (p.Glu200Gly) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E200G (p.Glu200Gly) variant details
- p.Glu200Gly
- rs782158761
- ClinGen CA10568575
- ClinVar RCV000519065
- ClinVar RCV000851605
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.78
- MetaLR 0.95
- MetaSVM 0.88
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)