R5P (p.Arg5Pro) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R5P (p.Arg5Pro) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- TOPMed rs1345360796
- gnomAD rs1345360796
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.37
- MetaLR 0.18
- MetaSVM -0.87
- CADD 22.50
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available