W431L (p.Trp431Leu) variant of F9 (Coagulation factor IX)
W431L (p.Trp431Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
W431L (p.Trp431Leu) variant details
- p.Trp431Leu
- rs1928130087
- ClinGen CA414447141
- ClinVar RCV003813517
- Uncertain significance
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- AlphaMissense 0.84
- MetaLR 0.89
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Variant of uncertain significance (in HEMB)
- UniProt: Uncertain significance (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)