P8L (p.Pro8Leu) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P8L (p.Pro8Leu) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD rs2034028168
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.97
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available