C227R (p.Cys227Arg) variant of FGB (Fibrinogen beta chain)
C227R (p.Cys227Arg) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial dysfibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
C227R (p.Cys227Arg) variant details
- p.Cys227Arg
- rs1578783532
- ClinGen CA358511914
- ClinVar RCV000984798
- Ensembl rs1578783532
- Pathogenic
- Familial dysfibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Familial dysfibrinogenemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available