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. 2021 Mar 19;12:530028. doi: 10.3389/fgene.2021.530028

TABLE 2.

In silico analysis of the CDK5RAP2 variants.

Variant Protein effect ClinVar DANN EIGEN MutPred MutationTaster SIFT PolyPhen-2
c.1156C > T p.Thr274LysfsTer27 NR 0.9987 Pathogenic Pathogenic Disease causing Damaging Probably damaging
c.280C > T p.Glu275ArgfsTer16 NR 0.9993 Pathogenic Pathogenic Disease causing Damaging Probably damaging