N83I (p.Asn83Ile) variant of FGA (Fibrinogen alpha chain)
N83I (p.Asn83Ile) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
N83I (p.Asn83Ile) variant details
- p.Asn83Ile
- 1000Genomes rs186283932
- ExAC rs186283932
- TOPMed rs186283932
- gnomAD rs186283932
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.36
- CADD 21.90
- PolyPhen-2 0.47
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)