D37N (p.Asp37Asn) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D37N (p.Asp37Asn) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- gnomAD 15-39934304-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.29
- CADD 29.30
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available