PRKRA
Chr 2ARprotein activator of interferon induced protein kinase EIF2AK2
Also known as: DYT16, HSD14, PACT, RAX
This gene encodes a protein kinase that activates PKR leading to translation inhibition and apoptosis, and is required for siRNA production by DICER1. Mutations cause dystonia 16, an autosomal recessive movement disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.558), suggesting some intolerance to complete loss of function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PRKRA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools