UNC13D: c.1759C>T p.Arg587Cys
Information from in silico tools
Predictor | Score | Label |
---|---|---|
CADD v1.5 | 24.2 | Deleterious |
PolyPhen-2 | 0.865 | Possibly damaging |
PON-P2 | nan | |
SIFT | 0.036 | Damaging |
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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 MHD1 |
Variant Information | dbSNP | rs148574729 |
Ensembl | variant | |
Population Allele Frequency | ExAC | 0.000196 |
gnomAD | 0.000189 |