L383R (p.Leu383Arg) variant of FGB (Fibrinogen beta chain)
L383R (p.Leu383Arg) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
L383R (p.Leu383Arg) variant details
- p.Leu383Arg
- rs121909621
- ClinGen CA126442
- ClinVar RCV000017815
- UniProt VAR 016909
- Pathogenic
- Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.51
- ClinVar: Pathogenic (Congenital afibrinogenemia)
- EBI: Pathogenic (in CAFBN)
- UniProt: Pathogenic (in CAFBN)
- Structural context available
- Cited in: Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. (PMID 10666208)
- Cited in: The impaired polymerization of fibrinogen Longmont (Bbeta166Arg-->Cys) is not improved by removal of disulfide-linked… (PMID 11468164)