L2229P (p.Leu2229Pro) variant of F8 (Coagulation factor VIII)
L2229P (p.Leu2229Pro) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L2229P (p.Leu2229Pro) variant details
- p.Leu2229Pro
- rs1603431506
- ClinGen CA414905380
- ClinVar RCV000851610
- ClinVar RCV003117555
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.96
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor IX deficiency disease)
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)