Hi
I am analyzing the exome seq data and I have identified a nonframeshift deletion within a gene. is there any software to check if this nonframeshift mutation change the proteins structure or is it is deleterious or if it is important to consider?
Thank you Sara
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Biostar User •
2 answers
Annotate your variant with a prediction tool. VEP is one good choice: http://useast.ensembl.org/info/docs/variation/vep/index.html
The various standard annotation programs will take in to account how conserved that residue is within mammals, vertebrates, animals in general, etc (PhyloP, MutationTaster, GERP++, etc) but these tools are most useful for giving you a rough idea of the effect of variants in a dataset when prioritizing.
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