P16R (p.Pro16Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P16R (p.Pro16Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P16R (p.Pro16Arg) variant details
- p.Pro16Arg
- TOPMed rs922734815
- gnomAD rs922734815
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- MetaLR 0.14
- MetaSVM -0.96
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available