F38L (p.Phe38Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
F38L (p.Phe38Leu) 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.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- gnomAD 15-39934307-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available