N83S (p.Asn83Ser) variant of FGA (Fibrinogen alpha chain)
N83S (p.Asn83Ser) 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 0.17 / 1. The record also includes population frequency data.
N83S (p.Asn83Ser) variant details
- p.Asn83Ser
- 1000Genomes rs186283932
- ExAC rs186283932
- TOPMed rs186283932
- gnomAD rs186283932
- Uncertain significance
- Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial visceral amyloi
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.20
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Familial dysfibrinogenemia; Congenital afibrinogenemia; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)