A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

Table 1

In silico prediction tool results for c.1301 C > G (p.S434C) variant [8–12].

Software	Prediction for c.1301C > G (p.S434C) variant
PolyPhen-2	0.999 (probably damaging)
Mutation taster	Disease causing
SIFT	Intolerant
MutPred2	0.198 (threshold 0.5)
PROVEAN	−2.010 (neutral)