P43T (p.Pro43Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P43T (p.Pro43Thr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P43T (p.Pro43Thr) variant details
- p.Pro43Thr
- gnomAD 15-39934322-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.03
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available