V89M (p.Val89Met) variant of F11 (Coagulation factor XI)
V89M (p.Val89Met) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary factor XI deficiency disease. The record also includes population frequency data and structural context.
V89M (p.Val89Met) variant details
- p.Val89Met
- cosmic curated COSV53006
- Ensembl rs1740101842
- Uncertain significance
- Hereditary factor XI deficiency disease
- Missense
- ClinVar: Uncertain significance (Hereditary factor XI deficiency disease)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available