F123S (p.Phe123Ser) variant of F9 (Coagulation factor IX)
F123S (p.Phe123Ser) 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; Hereditary factor IX deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F123S (p.Phe123Ser) variant details
- p.Phe123Ser
- rs1927592901
- ClinGen CA414437840
- NCI-TCGA Cosmic COSV5438
- ClinVar RCV002016448
- Likely pathogenic
- Thrombophilia, X-linked, due to factor 9 defect; Hereditary factor IX deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.39
- MetaLR 0.89
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.32
- ClinVar: Likely pathogenic (Thrombophilia, X-linked, due to factor 9 defect; Hereditary fact)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Hemophilia B. (PMID 20301668)
- Cited in: Clinical utility gene card for: haemophilia B. (PMID 22274582)