G31V (p.Gly31Val) variant of FGA (Fibrinogen alpha chain)
G31V (p.Gly31Val) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Familial visceral amyloidosis, Ostertag type; Familial dysfibrino. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- rs121909605
- ClinGen CA126460
- ClinVar RCV000017824
- ClinVar RCV002284175
- Conflicting interpretations
- not specified; Familial visceral amyloidosis, Ostertag type; Familial dysfibrino
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.49
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Familial visceral amyloidosis, Ostertag type; Fam)
- EBI: Likely pathogenic (in Rouen-1)
- UniProt: Likely pathogenic (in Rouen-1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Episodes of increased fibronectin level observed in a patient suffering from recurrent thrombosis related to congenital… (PMID 4084461)