Q23R (p.Gln23Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q23R (p.Gln23Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD 15-39934263-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.45
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available