D44N (p.Asp44Asn) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D44N (p.Asp44Asn) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- TOPMed rs1355293664
- gnomAD rs1355293664
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.01
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.91
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available