Overview

Position: (GRCh38/hg38):Chr19:44908969 G>A
Position: (GRCh37/hg19):Chr19:45412226 G>A
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs547472686
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GCC to ACC
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant has not been associated with any disease or condition, but it has been examined in a study that analyzed missense single nucleotide polymporhisms (SNPs) in APOE retrieved from the NCBI database dbSNP (Pires et al., 2017). Eight of 16 in silico prediction tools, including algorithms based on sequence homology, supervised-learning, protein-sequence and structure, and consensus motifs, predicted the variant was damaging (see supplemental table 2 in Pires et al., 2017). Of note, all four structure-based algorithms classified the variant as destabilizing or deleterious. Moreover, this variant's PHRED-scaled CADD score, which integrates diverse information in silico, was above 20, suggesting a deleterious effect (CADD v.1.6, Dec 2022).

The variant was found in the 1000 Genomes Project. It was also reported in the gnomAD variant database at a frequency of 0.0000078, including a single heterozygote of European ancestry (gnomAD v2.1.1, Dec 2022).

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References

Paper Citations

1. Pires AS, Porto WF, Franco OL, Alencar SA. In silico analyses of deleterious missense SNPs of human apolipoprotein E3. Sci Rep. 2017 May 30;7(1):2509. PubMed.

Further Reading

No Available Further Reading