P16A (p.Pro16Ala) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P16A (p.Pro16Ala) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P16A (p.Pro16Ala) variant details
- p.Pro16Ala
- gnomAD rs1443167446
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.03
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available