Q2208R (p.Gln2208Arg) variant of F8 (Coagulation factor VIII)
Q2208R (p.Gln2208Arg) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor VIII deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q2208R (p.Gln2208Arg) variant details
- p.Gln2208Arg
- rs782198570
- ClinGen CA10567784
- ClinVar RCV000403190
- ClinVar RCV002252106
- Likely pathogenic
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.74
- MetaLR 0.93
- MetaSVM 1.07
- CADD 23.00
- PolyPhen-2 0.58
- SIFT 0.47
- ClinVar: Likely pathogenic (Hereditary factor VIII deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)