L27V (p.Leu27Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
L27V (p.Leu27Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 15-39934274-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.22
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available