R44C (p.Arg44Cys) variant of FGB (Fibrinogen beta chain)
R44C (p.Arg44Cys) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial dysfibrinogenemia; not provided; Hypofibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs121909616
- ClinGen CA126428
- NCI-TCGA Cosmic COSV5741
- Pathogenic/Likely pathogenic
- Familial dysfibrinogenemia; not provided; Hypofibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.76
- MetaLR 0.48
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic/Likely pathogenic (Familial dysfibrinogenemia; not provided; Hypofibrinogenemia)
- EBI: Pathogenic (in Christchurch-2, Seattle-1 and Ijmuiden)
- UniProt: Pathogenic (in Christchurch-2, Seattle-1 and Ijmuiden)
- Structural context available
- Cited in: Abnormal fibrinogens IJmuiden (B beta Arg14----Cys) and Nijmegen (B beta Arg44----Cys) form disulfide-linked… (PMID 1565641)