P20T (p.Pro20Thr) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P20T (p.Pro20Thr) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- TOPMed rs2034029108
- gnomAD rs2034029108
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.04
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available