R10A (p.Arg10Ala) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
R10A (p.Arg10Ala) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R10A (p.Arg10Ala) variant details
- p.Arg10Ala
- rs1284752783
- gnomAD 15-39934214-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 14.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available