G72E (p.Gly72Glu) variant of FGA (Fibrinogen alpha chain)
G72E (p.Gly72Glu) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial visceral amyloidosis, Ostertag type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1.
G72E (p.Gly72Glu) variant details
- p.Gly72Glu
- rs1730803914
- ClinGen CA358533376
- ClinVar RCV001251021
- Ensembl rs1730803914
- Uncertain significance
- Familial visceral amyloidosis, Ostertag type
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.90
- MetaLR 0.74
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (Familial visceral amyloidosis, Ostertag type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance