R717L (p.Arg717Leu) variant of F8 (Coagulation factor VIII)
R717L (p.Arg717Leu) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary factor VIII deficiency disease. 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.
R717L (p.Arg717Leu) variant details
- p.Arg717Leu
- rs942909873
- ClinGen CA414903862
- ClinVar RCV002223108
- UniProt VAR 028593
- Conflicting interpretations
- Hereditary factor VIII deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.09
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (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: Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and… (PMID 8759905)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)