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Deleterious genetic variants can be evaluated as quantitative traits usinginformation theory-based sequence analysis of recognition sites. To assess theeffect of such variants, fitness and genetic load of SNPs which alter bindingsite affinity are derived from changes in individual information and allelefrequencies. Human SNPs that alter mRNA splicing are partitioned according totheir genetic load. SNPs with high genetic loads (>0.5) are common in thegenome and, in many instances, predicted effects are supported by geneexpression studies.

Population Fitness and Genetic Load of Single Nucleotide Polymorphisms Affecting mRNA splicing