L369P (p.Leu369Pro) variant of F9 (Coagulation factor IX)
L369P (p.Leu369Pro) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L369P (p.Leu369Pro) variant details
- p.Leu369Pro
- rs1603267393
- ClinGen CA414445922
- ClinVar RCV000851659
- ClinVar RCV001378168
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (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)