L23P (p.Leu23Pro) variant of F9 (Coagulation factor IX)
L23P (p.Leu23Pro) 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. 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.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- rs1927328297
- ClinGen CA414434403
- ClinVar RCV003484572
- TOPMed rs1927328297
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- AlphaMissense 0.30
- MetaLR 0.82
- MetaSVM 0.77
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)