A2T (p.Ala2Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A2T (p.Ala2Thr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 15-39934199-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available