Q23H (p.Gln23His) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
Q23H (p.Gln23His) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- ExAC rs758007786
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.54
- MetaLR 0.30
- MetaSVM -0.57
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available