A233T (p.Ala233Thr) variant of F9 (Coagulation factor IX)
A233T (p.Ala233Thr) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary factor IX deficiency disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
A233T (p.Ala233Thr) variant details
- p.Ala233Thr
- rs387906478
- ClinGen CA255365
- cosmic curated COSV10586
- ClinVar RCV000011347
- Pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.22
- MetaLR 0.81
- MetaSVM 0.27
- PolyPhen-2 0.83
- SIFT 0.01
- EVE 0.19
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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: Hemophilia B. (PMID 20301668)