F301L (p.Phe301Leu) variant of F11 (Coagulation factor XI)
F301L (p.Phe301Leu) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Factor XI; not provided; Hereditary factor XI deficiency disease. The record also includes population frequency data, published literature, and structural context.
F301L (p.Phe301Leu) variant details
- p.Phe301Leu
- cosmic curated COSV10959
- Ensembl rs1740697838
- Pathogenic/Likely pathogenic
- Factor XI; not provided; Hereditary factor XI deficiency disease
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Factor XI; not provided; Hereditary factor XI deficiency disease)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. (PMID 1547342)
- Cited in: Factor XI deficiency in Ashkenazi Jews in Israel. (PMID 2052060)