A7T (p.Ala7Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A7T (p.Ala7Thr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- ExAC rs776846678
- TOPMed rs776846678
- gnomAD rs776846678
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.04
- MetaLR 0.14
- MetaSVM -1.04
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available