UNC13D: c.610A>G p.Met204Val
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Uncertain significance (criteria provided, multiple submitters, no conflicts) |
| UniProt | - | |
| Biological Relevance | Functional residue | domain C2 1 |
| Variant Information | dbSNP | rs144722609 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.000577 |
| gnomAD | 0.000679 |