Table 2.
Functional prediction and conservation scores of the two variants
| Gene | Variant | AF (gnomAD) | SIFT | PP2-HDIV | MT | CADD | z-score | pLI | GERP-RS | ClinVar |
|---|---|---|---|---|---|---|---|---|---|---|
| NRXN1 | c.2686C>T (p.Arg896Trp) | 0 | D | D | DC | 26.5 | 3.02 | 1 | 4.52 | VUS |
| NRXN2 | c.3176G>A (p.Arg1059Gln) | 1.22 × 105 | D | D | DC | 29.7 | 5.81 | 1 | 4.13 | N/A |
(AF) Allele frequency, (CADD) combined annotation-dependent depletion, (D) deleterious, (DC) disease causing, (GERP) Genomic Evolutionary Rate Profiling, (MT) MutationTaster, (N/A) not available, (pLI) loss-of-function constraint metric, (PP-2) PolyPhen-2, (SIFT) Sorting Intolerant from Tolerant, (VUS) variant of uncertain significance, (z-score) missense constraint metric.