STXBP2: c.497C>T p.Thr166Met
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Likely benign (criteria provided, single submitter) |
| UniProt | - | |
| Biological Relevance | Functional residue | - |
| Variant Information | dbSNP | rs181216956 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.000245 |
| gnomAD | 0.001062 |