P16T (p.Pro16Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P16T (p.Pro16Thr) 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.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- gnomAD 15-39934241-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.06
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available