L190P (p.Leu190Pro) variant of F11 (Coagulation factor XI)
L190P (p.Leu190Pro) 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 not provided; Plasma factor XI deficiency. The record also includes population frequency data and structural context.
L190P (p.Leu190Pro) variant details
- p.Leu190Pro
- 1000Genomes rs574509278
- ExAC rs574509278
- TOPMed rs574509278
- gnomAD rs574509278
- Pathogenic/Likely pathogenic
- not provided; Plasma factor XI deficiency
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Plasma factor XI deficiency)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available