C46R (p.Cys46Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
C46R (p.Cys46Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
C46R (p.Cys46Arg) variant details
- p.Cys46Arg
- gnomAD rs1272475955
- Missense
- Variant Prioritization Score for Impact Estimate 0.0783
- REVEL 0.01
- MetaLR 0.01
- MetaSVM -0.96
- CADD 7.79
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available