L202Q (p.Leu202Gln) variant of FGB (Fibrinogen beta chain)
L202Q (p.Leu202Gln) 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 0.73 / 1. The record also includes published literature and structural context.
L202Q (p.Leu202Gln) variant details
- p.Leu202Gln
- rs121909624
- ClinGen CA126450
- ClinVar RCV000017821
- UniProt VAR 072620
- Pathogenic
- Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (Congenital afibrinogenemia)
- EBI: Pathogenic (in CAFBN)
- UniProt: Pathogenic (in CAFBN)
- Structural context available
- Cited in: Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. (PMID 15070683)
- Cited in: Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. (PMID 10666208)