E14E (p.Glu14Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E14E (p.Glu14Glu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs999615332
- gnomAD 15-39934237-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available