Skip to main content

Table 1 Information on missense mutations in the CASK gene

From: A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Gene CASK  
cDNA mutation NM_003688.3: c.638T>G  
Variant allele frequency ExAC Browser 0
  GnomAD 0.000005520
  1000 Genomes Project 0
  In-house Chinese-Control 0
Amino acid sequence conservation (mutation taster) PhyloP 3.907
  PhastCons 1
Function prediction SIFT Deleterious
  PolyPhen-2 Most likely, damaging
  M-CAP Possibly pathogenic