R245W (p.Arg245Trp) variant of F8 (Coagulation factor VIII)
R245W (p.Arg245Trp) 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 not provided; Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R245W (p.Arg245Trp) variant details
- p.Arg245Trp
- rs781943956
- ClinGen CA10568550
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000852202
- Pathogenic/Likely pathogenic
- not provided; Thrombophilia, X-linked, due to factor 8 defect; Hereditary factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.32
- MetaLR 0.94
- MetaSVM 1.03
- CADD 7.02
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic (not provided; Thrombophilia, X-linked, due to factor 8 defect; H)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)