D44H (p.Asp44His) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D44H (p.Asp44His) 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 and structural context.
D44H (p.Asp44His) variant details
- p.Asp44His
- TOPMed rs1355293664
- gnomAD rs1355293664
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.40
- PolyPhen-2 0.26
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available