PRF1: c.1090_1091del p.Leu364Glufs*93
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Interpreting the variant
Learn more about the variant
|Biological Relevance||Affected functional residues||glycosylation site, domain EGF-like, domain C2, metal ion-binding site, disulfide bond, domain MACPF|
|Population Allele Frequency||ExAC||-|