P20Q (p.Pro20Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P20Q (p.Pro20Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD 15-39934254-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.03
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available