H25Q (p.His25Gln) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
H25Q (p.His25Gln) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H25Q (p.His25Gln) variant details
- p.His25Gln
- ESP rs374991853
- ExAC rs374991853
- TOPMed rs374991853
- gnomAD rs374991853
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.06
- CADD 23.10
- PolyPhen-2 0.34
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available