Y161C (p.Tyr161Cys) variant of F9 (Coagulation factor IX)
Y161C (p.Tyr161Cys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y161C (p.Tyr161Cys) variant details
- p.Tyr161Cys
- rs1927768329
- ClinGen CA414439233
- ClinVar RCV001238122
- TOPMed rs1927768329
- Likely pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.82
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Likely pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- 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)