STX11: c.146G>A p.Arg49Gln
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Benign/Likely benign (criteria provided, multiple submitters, no conflicts) |
| UniProt | Polymorphism | |
| Biological Relevance | Functional residue | - |
| Variant Information | dbSNP | rs17073498 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.007568 |
| gnomAD | 0.007739 |