A98T (p.Ala98Thr) variant of FGB (Fibrinogen beta chain)
A98T (p.Ala98Thr) in FGB (Fibrinogen beta chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital afibrinogenemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A98T (p.Ala98Thr) variant details
- p.Ala98Thr
- rs121909620
- ClinGen CA126440
- ClinVar RCV000017811
- UniProt VAR 002406
- Likely pathogenic
- Congenital afibrinogenemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.52
- CADD 22.10
- PolyPhen-2 0.38
- SIFT 0.18
- ClinVar: Likely pathogenic (Congenital afibrinogenemia)
- EBI: Pathogenic (in DYSFIBRIN)
- UniProt: Pathogenic (in DYSFIBRIN)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous… (PMID 1634610)