Overview

Clinical Phenotype: Cardiovascular Disease
Reference Assembly: GRCh37/hg19
Position: Chr19:45412172 C>T
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs749750245
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CCG to CTG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

A study of cardiovascular disease risk involving analyses of whole-genome and whole-exome sequencing data from 138,632 individuals, identified R163C as one of six APOE variants likely to have functional consequences and clinical relevance given their high prevalence in at least one population and their classification by five algorithms (SIFT, Polyphen2, MutationAssessor, PROVEAN, and DANN) as deleterious with high confidence (Zhou et al., 2018). Consistently, R207C’s PHRED-scaled CADD score, which integrates diverse information in silico, was 24.6, suggesting a deleterious effect (CADD v.1.6, May 2022).

Thirty heterozygotes were reported in the gnomAD variant database, all of whom were of Latino/Admixed American ancestry except one (v2.1.1, May 2022). Consistently, Zhou and colleagues reported a frequency of 0.002 in Latinos (Zhou et al., 2018).

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References

Paper Citations

1. Zhou Y, Mägi R, Milani L, Lauschke VM. Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk. J Lipid Res. 2018 Oct;59(10):1987-2000. Epub 2018 Aug 3 PubMed.

Further Reading

No Available Further Reading