P20R (p.Pro20Arg) variant of EIF2AK4 (eIF-2-alpha kinase GCN2)
P20R (p.Pro20Arg) in EIF2AK4 (eIF-2-alpha kinase GCN2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- ExAC rs753520346
- TOPMed rs753520346
- gnomAD rs753520346
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.01
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0003)
- Structural context available