Figure 3.

An exemplar PP3, BP4, and BP7 decision tree for maximum SpliceAI splicing prediction scores and calibrated cut-off scores. The analytical process is shown in Figure 2B and data shown in Table 2. BP7 should not be applied for splice motif regions given their higher prior. This may be defined as the standard splice region (a conservative application already implemented by several VCEPs) or the minimal splice region. PP3 may still be applied for missense or insertion-deletion variants that show computational evidence for a deleterious effect for change in protein sequence.