G430D (p.Gly430Asp) variant of FGB (Fibrinogen beta chain)
G430D (p.Gly430Asp) 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 0.84 / 1. The record also includes published literature and structural context.
G430D (p.Gly430Asp) variant details
- p.Gly430Asp
- rs121909622
- ClinGen CA126444
- ClinVar RCV000017816
- UniProt VAR 016910
- Pathogenic
- Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- 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)