I33N (p.Ile33Asn) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
I33N (p.Ile33Asn) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I33N (p.Ile33Asn) variant details
- p.Ile33Asn
- gnomAD 15-39934293-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.58
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available