From: Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review
Software
Score
Predicted signal
HSFa
Site broken (−42.85)
Alteration of the WT donor site, most probably affect splicing
MutationTasterb
1
Disease causing
regSNP-intronc
0.822174865