Y614D (p.Tyr614Asp) variant of F11 (Coagulation factor XI)
Y614D (p.Tyr614Asp) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor XI deficiency disease. The record also includes population frequency data and structural context.
Y614D (p.Tyr614Asp) variant details
- p.Tyr614Asp
- TOPMed rs1741389510
- gnomAD rs1741389510
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available