A29D (p.Ala29Asp) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A29D (p.Ala29Asp) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- gnomAD 15-39934281-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.42
- CADD 27.10
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available