Google Veo

A missense variant is a single letter substitution in DNA that results in a different amino acid within a protein. These variants can affect protein function and may lead to diseases such as cystic fibrosis, sickle-cell anemia, or cancer. Most missense variants are benign, but some can severely disrupt protein function and cause disease.

AlphaMissense classified 89% of all 71 million possible missense variants as either likely pathogenic or likely benign. It achieved 90% precision on a database of known disease variants, outperforming other computational methods.

Yes, AlphaMissense's predictions are freely available for both commercial and scientific communities under a CC BY v.4 license. The model code is also open sourced.

AlphaMissense was fine-tuned on labels distinguishing variants seen in human and closely related primate populations. Variants commonly seen are treated as benign, and variants never seen are treated as pathogenic.

No, AlphaMissense predictions are not designed to be used directly in the clinic. They should be interpreted alongside other sources of evidence for clinical decisions.

AlphaMissense predictions are available through the Ensembl Variant Effect Predictor plugin, making them more usable for researchers. The expanded predictions and model code are also available for download.

AlphaMissense outperformed other computational methods when used to classify variants from ClinVar and in predicting results from biological experiments, showing it is consistent with different ways of measuring pathogenicity.