G442A (p.Gly442Ala) variant of F9 (Coagulation factor IX)
G442A (p.Gly442Ala) 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 0.89 / 1. The record also includes published literature and structural context.
G442A (p.Gly442Ala) variant details
- p.Gly442Ala
- rs1603267474
- ClinVar RCV004577668
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- EBI: Likely pathogenic (in HEMB)
- UniProt: Likely pathogenic (in HEMB)
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)