L41M (p.Leu41Met) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
L41M (p.Leu41Met) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L41M (p.Leu41Met) variant details
- p.Leu41Met
- gnomAD 15-39934316-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available