T342A (p.Thr342Ala) variant of F9 (Coagulation factor IX)
T342A (p.Thr342Ala) 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 Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T342A (p.Thr342Ala) variant details
- p.Thr342Ala
- rs1603267362
- ClinGen CA414445440
- ClinVar RCV001003927
- ClinVar RCV002489512
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensitivity, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.57
- MetaLR 0.38
- MetaSVM -0.41
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Warfarin sensit)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)