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