G35V (p.Gly35Val) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
G35V (p.Gly35Val) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- gnomAD 15-39934299-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.20
- CADD 29.00
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available