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Table 1 Evaluation of possible impact of c.1343C > T, p.Ala448Val variant of CLCN4 by different bioinformatic prediction tools

From: Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

Variant SIFT score PolyPhen-2 MutationTaster GERP++ REVEL
c.1343C > T, 0.003 0.868 1 5.44 0.856
p.Ala448Val Damaging Possibly damaging Disease causing Damaging Damaging