This track shows the AlphaGenome Variant Impact (AVI) score, a prediction from Google DeepMind -of how likely a given substitution is to be disease causing. Scores are provided for every +of how likely a given substitution is to have an impact. Scores are provided for every possible single-base substitution at every position in the genome, about 8.8 billion in total. Unlike predictors that only cover protein-coding changes, the AVI score is defined genome wide, so it also scores variants in introns and in intergenic regulatory regions.
For an introduction to AlphaGenome and to the AVI score, see the AlphaGenome educational guides at Google DeepMind. The resource and the score are described in detail in the AlphaGenome Atlas preprint.