Q21* (p.Gln21Ter) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q21* (p.Gln21Ter) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- gnomAD rs1355402531
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available