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Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants
2021
Frontiers in Molecular Biosciences
Non-synonymous Single Nucleotide Variants (nsSNVs), resulting in single amino acid variants (SAVs), are important drivers of evolutionary adaptation across the tree of life. Humans carry on average over 10,000 SAVs per individual genome, many of which likely have little to no impact on the function of the protein they affect. Experimental evidence for protein function changes as a result of SAVs remain sparse – a situation that can be somewhat alleviated by predicting their impact using
doi:10.3389/fmolb.2021.635382
pmid:33816556
pmcid:PMC8012514
fatcat:zli2txlejfdrxihpov5jd6epem