Q23* (p.Gln23Ter) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q23* (p.Gln23Ter) 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 and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- ExAC rs749915180
- TOPMed rs749915180
- gnomAD rs749915180
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 39.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available