S104L (p.Ser104Leu) variant of F11 (Coagulation factor XI)
S104L (p.Ser104Leu) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data and structural context.
S104L (p.Ser104Leu) variant details
- p.Ser104Leu
- ExAC rs745811081
- TOPMed rs745811081
- gnomAD rs745811081
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available