V174M (p.Val174Met) variant of F9 (Coagulation factor IX)
V174M (p.Val174Met) 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 0.71 / 1. The record also includes published literature and structural context.
V174M (p.Val174Met) variant details
- p.Val174Met
- rs1603265504
- ClinGen CA414439515
- ClinVar RCV001001431
- ClinVar RCV003387953
- Likely pathogenic
- Hereditary factor IX deficiency disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.16
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 0.99
- SIFT 0.04
- MutPred 0.75
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease)
- 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)