C230S (p.Cys230Ser) variant of F11 (Coagulation factor XI)
C230S (p.Cys230Ser) 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 Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid. The record also includes structural context.
C230S (p.Cys230Ser) variant details
- p.Cys230Ser
- Ensembl rs2126740246
- Pathogenic/Likely pathogenic
- Hereditary factor XI deficiency disease; Plasma factor XI deficiency; not provid
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hereditary factor XI deficiency disease; Plasma factor XI defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available