G368R (p.Gly368Arg) variant of F11 (Coagulation factor XI)
G368R (p.Gly368Arg) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor XI deficiency disease; not provided. The record also includes structural context.
G368R (p.Gly368Arg) variant details
- p.Gly368Arg
- rs2477335764
- ClinGen CA358938933
- ClinVar RCV003555169
- ClinVar RCV005419653
- Likely pathogenic
- Hereditary factor XI deficiency disease; not provided
- Missense
- ClinVar: Likely pathogenic (Hereditary factor XI deficiency disease; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available