R43L (p.Arg43Leu) variant of F9 (Coagulation factor IX)
R43L (p.Arg43Leu) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease; not specified; Thrombophilia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- rs1275708479
- ClinGen CA414435545
- ClinVar RCV001812346
- ClinVar RCV004753261
- Pathogenic
- Hereditary factor IX deficiency disease; not specified; Thrombophilia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.22
- MetaLR 0.91
- MetaSVM 0.71
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (not provided)
- 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: Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a… (PMID 9169594)