L41R (p.Leu41Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
L41R (p.Leu41Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L41R (p.Leu41Arg) variant details
- p.Leu41Arg
- gnomAD 15-39934317-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.40
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available