D24N (p.Asp24Asn) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D24N (p.Asp24Asn) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- gnomAD rs1308786743
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -0.97
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available