What is the VEP Impact column?

Question

[nub6]

Hi,

Does anyone know what the VEP Impact column means.

I have the following categories: HIGH MODERATE LOW

How should I interpret this information?

Thanks!

Answer 1

[Nicolas Rosewick]

Everything is explained on ENSEMBL website : https://www.ensembl.org/info/genome/variation/prediction/predicted_data.html

and here : https://www.ensembl.org/Help/Glossary

Variant impact A subjective classification of the severity of the variant consequence, based on agreement with SNPEff.

Modifier impact variant consequence Usually non-coding variants or variants affecting non-coding genes, where predictions are difficult or there is no evidence of impact.

Low impact variant consequence A variant that is assumed to be mostly harmless or unlikely to change protein behaviour.

Moderate impact variant consequence A non-disruptive variant that might change protein effectiveness.

High impact variant consequence The variant is assumed to have high (disruptive) impact in the protein, probably causing protein truncation, loss of function or triggering nonsense mediated dec

[nub6]

Thanks so much that is great!

[Ahmed Ezat El Zowalaty]

What do SOMATIC=1,1,1,1,1,1,1, SOMATIC=0,0,1,1 mean? How to interpret somatic annotation from VEP?