R546W (p.Arg546Trp) variant of F8 (Coagulation factor VIII)
R546W (p.Arg546Trp) 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 Factor VIII deficiency; not provided; Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R546W (p.Arg546Trp) variant details
- p.Arg546Trp
- rs137852416
- ClinGen CA255112
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000010935
- Pathogenic/Likely pathogenic
- Factor VIII deficiency; not provided; Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.84
- MetaLR 0.96
- MetaSVM 0.85
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Factor VIII deficiency; not provided; Hereditary factor IX defic)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- 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: Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. (PMID 11748850)