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 |