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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