C500W (p.Cys500Trp) variant of F11 (Coagulation factor XI)
C500W (p.Cys500Trp) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Plasma factor XI deficiency; Hereditary factor XI deficiency disease. The record also includes population frequency data and structural context.
C500W (p.Cys500Trp) variant details
- p.Cys500Trp
- ExAC rs761254473
- TOPMed rs761254473
- gnomAD rs761254473
- Pathogenic/Likely pathogenic
- Plasma factor XI deficiency; Hereditary factor XI deficiency disease
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Plasma factor XI deficiency; Hereditary factor XI deficiency dis)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available