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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