W240G (p.Trp240Gly) variant of F9 (Coagulation factor IX)
W240G (p.Trp240Gly) 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; Thrombophilia, X-linked, due to factor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
W240G (p.Trp240Gly) variant details
- p.Trp240Gly
- rs1390220758
- ClinGen CA414441395
- ClinVar RCV002009981
- TOPMed rs1390220758
- Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.82
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)