A36T (p.Ala36Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
A36T (p.Ala36Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- gnomAD rs1417044761
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.06
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available