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Glossary

IMPACT (IMPACT (variation consequences))

A subjective classification of the severity of the variant consequence. The four categories are:

HIGH:

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

MODERATE:

A non-disruptive variant that might change protein effectiveness.

LOW:

Assumed to be mostly harmless or unlikely to change protein behaviour.

MODIFIER:

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