UNC13D: c.1228A>C p.Ile410Leu
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Conflicting interpretations of pathogenicity (criteria provided, conflicting interpretations) |
| UniProt | - | |
| Biological Relevance | Functional residue | Interaction with RAB27A |
| Variant Information | dbSNP | rs117221419 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.001043 |
| gnomAD | 0.001159 |