R550H (p.Arg550His) variant of F8 (Coagulation factor VIII)
R550H (p.Arg550His) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R550H (p.Arg550His) variant details
- p.Arg550His
- rs137852418
- ClinGen CA255115
- ClinVar RCV000010938
- ClinVar RCV003656622
- Pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- MetaLR 0.95
- MetaSVM 0.83
- CADD 21.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Molecular etiology of factor VIII deficiency in hemophilia A. (PMID 7728145)
- Cited in: Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and… (PMID 8759905)