H53Y (p.His53Tyr) variant of F11 (Coagulation factor XI)
H53Y (p.His53Tyr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar 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.
H53Y (p.His53Tyr) variant details
- p.His53Tyr
- ExAC rs55956266
- gnomAD rs55956266
- Likely pathogenic
- Hereditary factor XI deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease)
- UniProt: Likely pathogenic (in FA11D)
- Population evidence available
- Structural context available