Shown below are (missense) variants annotated with Homologous Missense Constraint score
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Homologous Missense Constraint
Input a variant or a gene name bellow or click here to upload a list or a vcf file.
1-115256528-T-G
or
SCN5A
Homologous Missense Constraint utilizes information to help inform the clinical significance of missense variants associated with human diseases.
Homologous Missense Constraint
Genetic Intolerance of Missense Variation at Homologous Residues of Pfam domains
Overview
Homologous Missense Constraint (HMC) is a novel pathogenicity predictor for missense variants. It measures the degree of depletion of missense variants at homologous residues across protein domain families. We have demonstrated that it can improve missense intrepretation and gene discovery.
More information can be found in Zhang.X, et.al and at at a blog post here.
License
The data provided here is available under the ODC Open Database License (ODbL) : you are free to share and modify the data provided here as long as you attribute any public use of the database, or works produced from the database; keep the resulting data-sets open; and offer your shared or adapted version of the dataset under the same ODbL license.
Citation
Zhang, X., Theotokis, P.I., Li, N. et al. Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery. Genome Med 16, 88 (2024). https://doi.org/10.1186/s13073-024-01358-9