L27P (p.Leu27Pro) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
L27P (p.Leu27Pro) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 15-39934275-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available