UNC13D: c.2599A>G p.Lys867Glu
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Interpreting the variant
Learn more about the variant
| Clinical Evidence | ClinVar | Benign (criteria provided, multiple submitters, no conflicts) |
| UniProt | Polymorphism | |
| Biological Relevance | Functional residue | domain MHD2 |
| Variant Information | dbSNP | rs1135688 |
| Ensembl | variant | |
| Population Allele Frequency | ExAC | 0.3666 |
| gnomAD | 0.363966 |