E14Q (p.Glu14Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E14Q (p.Glu14Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- ExAC rs774742348
- gnomAD rs774742348
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -0.96
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available