R1708C (p.Arg1708Cys) variant of F8 (Coagulation factor VIII)
R1708C (p.Arg1708Cys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R1708C (p.Arg1708Cys) variant details
- p.Arg1708Cys
- rs111033613
- ClinGen CA120919
- ClinVar RCV000010826
- ClinVar RCV000010827
- Pathogenic
- not provided; Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.08
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Hereditary factor VIII deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- 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: Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. (PMID 11298607)