gnomAD v4.1.1 exomes and genomes variants, the LoF and missense constraint tracks, and the four gnomAD MPC allele tracks plus MPC overlaps, at the KCNH1 locus on hg38.
gnomAD v4.1.1 exomes and genomes variants, the LoF and missense constraint tracks, and the four gnomAD MPC allele tracks plus MPC overlaps, at the KCNH1 locus on hg38.
For more information about the v4.1.1 update, see the gnomAD blog post.
We would like to thank the Genome -Aggregation Database Consortium for making these data available, and Caitlin Samocha for +Aggregation Database Consortium for making these data available, and Kaitlin Samocha for providing the MPC score data. We would also like to thank Christopher Lee, Maximilian Haeussler, and Gerardo Perez for their efforts on this release.
We are pleased to announce the release of the ClinPred pathogenicity score track for hg19 and hg38. ClinPred is a machine-learning predictor of pathogenicity for nonsynonymous (missense) single-nucleotide variants, combining existing pathogenicity scores with population allele frequency from gnomAD. It was trained on confidently annotated disease-causing and benign variants from ClinVar. Pre-computed scores are provided for all possible human missense variants in the exome.