L383H (p.Leu383His) variant of F9 (Coagulation factor IX)
L383H (p.Leu383His) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.69 / 1. The record also includes published literature and structural context.
L383H (p.Leu383His) variant details
- p.Leu383His
- rs1387119011
- ClinGen CA414446182
- ClinVar RCV003783793
- Pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.93
- MetaLR 0.72
- MetaSVM 0.43
- PolyPhen-2 0.99
- SIFT 0.08
- EVE 0.52
- ClinVar: Pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)