E26K (p.Glu26Lys) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
E26K (p.Glu26Lys) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- gnomAD 15-39934271-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available