PRF1: c.190C>T p.Gln64*
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Interpreting the variant
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(no assertion criteria provided)
|Biological Relevance||Affected functional residues||glycosylation site, domain EGF-like, Important for oligomerization, domain C2, metal ion-binding site, disulfide bond, domain MACPF|
|Population Allele Frequency||ExAC||-|