S18S (p.Ser18Ser) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
S18S (p.Ser18Ser) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- gnomAD 15-39934249-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 16.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available