Q21N (p.Gln21Asn) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q21N (p.Gln21Asn) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q21N (p.Gln21Asn) variant details
- p.Gln21Asn
- rs2034029277
- gnomAD 15-39934254-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available