Overview

Reference Assembly: GRCh37/hg19
Position: Chr19:45412250 C>G
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs554251788
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CGC to GGC
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

This variant has not been associated with any disease or condition, but computer modeling suggests it is damaging. It was reported in a study that analyzed missense single nucleotide polymporhisms (SNPs) in APOE retrieved from the NCBI database dbSNP (Pires et al., 2017). Ten of 16 in silico prediction tools, including algorithms in each of four categories—sequence homology, supervised-learning, protein-sequence and structure, and consensus-based methods—predicted the variant was damaging (see supplemental table 2 in Pires et al., 2017). Moreover, this variant's PHRED-scaled CADD score, which integrates diverse information in silico, was above 20 (23.7), suggesting a deleterious effect (CADD v.1.6, Dec 2022).

The variant was found in the 1000 Genomes Project, but it was absent from the gnomAD variant database (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