Q28P (p.Gln28Pro) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q28P (p.Gln28Pro) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q28P (p.Gln28Pro) variant details
- p.Gln28Pro
- gnomAD 15-39934278-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.26
- CADD 27.50
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available