Table 1 In silico analysis of the NR5A1 gene variants
From: Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
| Software | Effect | Value | Software | Effect | ||
|---|---|---|---|---|---|---|
| Missense variant prediction |
Sift SNAP SNP&GO Polyphen2 MutPred REVEL |
+ + + + − + |
0 30 Disease 0.998 0.485 0.787 | Splicing prediction |
HSF Ex skip ESE finder MaxEntScan Splice site score calculation |
+ + − 9.05 → 2.86 7.6 → 4.1 |