| Variant ID | 5-50441293-A-C |
| Genome Position | chr5:50441293 |
| ClinVar | . |
| SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
|---|---|---|---|---|---|
| SPROHSA233035 | 33 | ATT | - | 50441193-50441295 | Non-Synonymous p.I1M |
| Source | Allele Count | Allele Frequency |
|---|---|---|
| gnomAD3 | 56625 | 0.39613 |
| 1KGP3 | 2053 | 0.40994 |
| TOPMed | 51242 | 0.40808 |
| GAsP | 1538 | 0.442 |
| NyuWa | 3003 | 0.50067 |
| Ribosome profiling | SRR1795427 | |
| Variant Type | uAUG_gained |
| Gene | EMB |
| Context | CGGAATG |
| Kozak Sequence | CCCATGC |
| Kozak Strength | Weak |
| Effect | uORF_created |
| Distance to CDS | 144 |
| Distance to Alt Stop | . |