G9R (p.Gly9Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G9R (p.Gly9Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- gnomAD 15-39934214-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 21.50
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available
- Literature evidence available