I316T (p.Ile316Thr) variant of F9 (Coagulation factor IX)
I316T (p.Ile316Thr) 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 not provided; Hereditary factor IX deficiency disease; Thrombophilia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
I316T (p.Ile316Thr) variant details
- p.Ile316Thr
- rs1603267344
- ClinGen CA414444900
- ClinVar RCV001001414
- ClinVar RCV003769385
- Pathogenic/Likely pathogenic
- not provided; Hereditary factor IX deficiency disease; Thrombophilia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.57
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary factor IX deficiency disease; Thromboph)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (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)