P8R (p.Pro8Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P8R (p.Pro8Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- rs2034028227
- gnomAD 15-39934217-CCCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 29.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available