L383P (p.Leu383Pro) variant of F9 (Coagulation factor IX)
L383P (p.Leu383Pro) 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 not specified; not provided; Thrombophilia, X-linked, due to factor 9 defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L383P (p.Leu383Pro) variant details
- p.Leu383Pro
- rs1387119011
- ClinGen CA414446185
- ClinVar RCV000695494
- ClinVar RCV003117493
- Uncertain significance
- not specified; not provided; Thrombophilia, X-linked, due to factor 9 defect
- 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: Uncertain significance (not specified; not provided; Thrombophilia, X-linked, due to fac)
- EBI: Variant of uncertain significance (in HEMB)
- UniProt: Uncertain significance (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)