Y115C (p.Tyr115Cys) variant of F9 (Coagulation factor IX)
Y115C (p.Tyr115Cys) in F9 (Coagulation factor IX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.89 / 1. The record also includes published literature and structural context.
Y115C (p.Tyr115Cys) variant details
- p.Tyr115Cys
- rs1603264727
- ClinGen CA414437636
- ClinVar RCV001000172
- ClinVar RCV001858905
- Pathogenic
- Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.80
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Hereditary factor IX deficiency disease; Thrombophilia, X-linked)
- EBI: Pathogenic (in HEMB)
- UniProt: Pathogenic (in HEMB)
- Structural context available
- Cited in: Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the… (PMID 9600455)
- Cited in: Identification of twenty-one new mutations in the factor IX gene by SSCP analysis. (PMID 10094553)