A279T (p.Ala279Thr) variant of F9 (Coagulation factor IX)
A279T (p.Ala279Thr) 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 Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A279T (p.Ala279Thr) variant details
- p.Ala279Thr
- rs137852247
- ClinGen CA277507
- NCI-TCGA Cosmic COSV5437
- cosmic curated COSV54378
- Uncertain significance
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.77
- AlphaMissense 0.26
- MetaLR 0.78
- MetaSVM 0.66
- CADD 23.00
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Population evidence available
- Structural context available
- Cited in: Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the… (PMID 2773937)
- Cited in: Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and… (PMID 8076946)