G33S (p.Gly33Ser) variant of FGA (Fibrinogen alpha chain)
G33S (p.Gly33Ser) 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 0.23 / 1. The record also includes population frequency data.
G33S (p.Gly33Ser) variant details
- p.Gly33Ser
- 1000Genomes rs541699852
- ExAC rs541699852
- TOPMed rs541699852
- gnomAD rs541699852
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.26
- SIFT 0.09
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MIAO population (allele frequency 0.05)