S18I (p.Ser18Ile) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
S18I (p.Ser18Ile) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S18I (p.Ser18Ile) variant details
- p.Ser18Ile
- gnomAD rs1489318389
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.63
- CADD 28.70
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available