D40Y (p.Asp40Tyr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
D40Y (p.Asp40Tyr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D40Y (p.Asp40Tyr) variant details
- p.Asp40Tyr
- gnomAD 15-39934313-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.50
- CADD 30.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available