R717Q (p.Arg717Gln) variant of F8 (Coagulation factor VIII)
R717Q (p.Arg717Gln) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R717Q (p.Arg717Gln) variant details
- p.Arg717Gln
- rs942909873
- ClinGen CA337325910
- ClinVar RCV001000480
- ClinVar RCV002249609
- Pathogenic/Likely pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.84
- MetaLR 0.94
- MetaSVM 1.19
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Thrombophilia, X-linked, due to factor 8 defect; Hereditary fact)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Latino/Admixed American population (allele frequency 0.00028)
- Structural context available
- Cited in: Hemophilia A. (PMID 20301578)
- Cited in: Clinical utility gene card for: haemophilia A. (PMID 21654722)