UNC13D: c.3160A>G p.Ile1054Val
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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 | - |
| Variant Information | dbSNP | rs150952348 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.000633 |
| gnomAD | 0.000519 |