Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

Figure 2

CADD vs. MAF plot of RAG2 by PopViz. The vertical and horizontal axes show the combined annotation-dependent depletion (CADD) and the minor allele frequency (MAF) scores, respectively. The red dot is the c.826 G > A variant and the other dots are the other variants for pathogenic RAG2 mutations (frameshift mutations, inframe Del/Ins mutations, intronic mutation, missense mutations, etc.) reported. The MAF score is −7 and the CADD score is 26.6, which indicates that the new mutation c.826 G > A is probably deleterious.