G9E (p.Gly9Glu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G9E (p.Gly9Glu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G9E (p.Gly9Glu) variant details
- p.Gly9Glu
- ExAC rs773331885
- gnomAD rs773331885
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -1.01
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available