R226W (p.Arg226Trp) variant of F9 (Coagulation factor IX)
R226W (p.Arg226Trp) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of F9-related disorder; Thrombophilia, X-linked, due to factor 9 defect; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R226W (p.Arg226Trp) variant details
- p.Arg226Trp
- rs137852240
- ClinGen CA255350
- cosmic curated COSV54379
- ClinVar RCV000011336
- Pathogenic/Likely pathogenic
- F9-related disorder; Thrombophilia, X-linked, due to factor 9 defect; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.50
- MetaLR 0.83
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (F9-related disorder; Thrombophilia, X-linked, due to factor 9 de)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point… (PMID 12588353)
- Cited in: Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX. (PMID 2162822)