Q23E (p.Gln23Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q23E (p.Gln23Glu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- ExAC rs749915180
- TOPMed rs749915180
- gnomAD rs749915180
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.41
- MetaLR 0.40
- MetaSVM -0.06
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available