Variant ID | 4-38804362-T-C |
Genome Position | chr4:38804362 |
ClinVar | . |
SmProt ID | Length | Start Codon | Strand | Blocks | Consequence |
---|---|---|---|---|---|
SPROHSA100420 | 28 | ATA | - | 38798870-38798898,38804305-38804364 | Non-Synonymous p.I1M |
Source | Allele Count | Allele Frequency |
---|---|---|
gnomAD3 | 19934 | 0.1392 |
1KGP3 | 901 | 0.17991 |
TOPMed | 19796 | 0.15765 |
GAsP | 820 | 0.236 |
NyuWa | 2931 | 0.48866 |
Ribosome profiling | . |
Variant Type | uAUG_gained |
Gene | TLR1 |
Context | ACTTATA |
Kozak Sequence | GATATGA |
Kozak Strength | Moderate |
Effect | uORF_created |
Distance to CDS | 218 |
Distance to Alt Stop | . |