I443T (p.Ile443Thr) variant of F9 (Coagulation factor IX)
I443T (p.Ile443Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Warfarin sensitivity, X-linked; Hereditary factor IX deficiency disease; Thrombo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I443T (p.Ile443Thr) variant details
- p.Ile443Thr
- rs137852268
- ClinGen CA255420
- ClinVar RCV000011371
- ClinVar RCV001382695
- Pathogenic/Likely pathogenic
- Warfarin sensitivity, X-linked; Hereditary factor IX deficiency disease; Thrombo
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.91
- MetaLR 0.78
- MetaSVM 0.72
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Warfarin sensitivity, X-linked; Hereditary factor IX deficiency)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Isoleucine397 is changed to threonine in two females with hemophilia B. (PMID 1902289)
- Cited in: CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B… (PMID 2066105)