G72R (p.Gly72Arg) variant of FGA (Fibrinogen alpha chain)
G72R (p.Gly72Arg) 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 dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data.
G72R (p.Gly72Arg) variant details
- p.Gly72Arg
- ExAC rs749744029
- TOPMed rs749744029
- gnomAD rs749744029
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.85
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)