T29I (p.Thr29Ile) variant of F9 (Coagulation factor IX)
T29I (p.Thr29Ile) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T29I (p.Thr29Ile) variant details
- p.Thr29Ile
- rs1927329129
- ClinGen CA414434494
- ClinVar RCV003050656
- ClinVar RCV004812464
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.15
- MetaLR 0.67
- MetaSVM 0.12
- PolyPhen-2 0.05
- SIFT 0.01
- MutPred 0.86
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)