Q28R (p.Gln28Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q28R (p.Gln28Arg) 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, published literature, and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- gnomAD 15-39934278-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.14
- CADD 26.10
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available