| Variant ID | 19-52635191-A-C |
| Genome Position | chr19:52635191 |
| ClinVar | . |
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|---|---|---|---|---|
| SPROHSA219518 | 27 | ATG | - | 52635147-52635204,52638311-52638338 | Non-Synonymous p.L14W |
| Source | Allele Count | Allele Frequency |
|---|---|---|
| gnomAD3 | 18434 | 0.12872 |
| 1KGP3 | 1185 | 0.23662 |
| TOPMed | 19051 | 0.15172 |
| GAsP | 890 | 0.256 |
| NyuWa | 2781 | 0.46365 |
| Ribosome profiling | . | |
| Variant Type | uAUG_gained |
| Gene | ZNF83 |
| Context | ATCAATA |
| Kozak Sequence | TGTATGG |
| Kozak Strength | Moderate |
| Effect | uORF_created |
| Distance to CDS | 361 |
| Distance to Alt Stop | . |