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 |