E31* (p.Glu31Ter) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E31* (p.Glu31Ter) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E31* (p.Glu31Ter) variant details
- p.Glu31Ter
- gnomAD 15-39934286-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 42.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available