L369F (p.Leu369Phe) variant of F9 (Coagulation factor IX)
L369F (p.Leu369Phe) 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 Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
L369F (p.Leu369Phe) variant details
- p.Leu369Phe
- rs2148367939
- ClinGen CA414445918
- ClinVar RCV002023260
- ClinVar RCV005647398
- Uncertain significance
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.77
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Uncertain significance (Hereditary factor IX deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)