P8T (p.Pro8Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P8T (p.Pro8Thr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 15-39934217-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- CADD 5.51
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available