P15T (p.Pro15Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P15T (p.Pro15Thr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 15-39934238-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available