R717W (p.Arg717Trp) variant of F8 (Coagulation factor VIII)
R717W (p.Arg717Trp) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R717W (p.Arg717Trp) variant details
- p.Arg717Trp
- rs137852435
- ClinGen CA255137
- NCI-TCGA Cosmic COSV6427
- ClinVar RCV000010958
- Pathogenic/Likely pathogenic
- Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor VIII deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.12
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- 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 REMAINING population (allele frequency 4.3e-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: Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and… (PMID 1301932)