UNC13D: c.2782C>T p.Arg928Cys
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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 | - | |
| Biological Relevance | Functional residue | domain C2 2 |
| Variant Information | dbSNP | rs35037984 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.02986 |
| gnomAD | 0.018635 |