APOE p.Asp171=
c.513T>C · VCV3308535
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,546,232)
Conditions
1
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1 | GERP -3.4 |
| Overall | ||
| CADD | 1.939 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,546,232). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- APOE
- Protein
- p.Asp171=
- Coding
- c.513T>C
- MANE Select
- NM_000041
- Type
- single nucleotide variant
- Location
- chr19:44908809 (GRCh38)
- Gene constraint
- LOEUF 1.319 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.13 · 31 PDB
- Residue 171
- the '8 x 22 aa approximate tandem repeats' region; an α-helix
Similar variants
- APOE p.Asp171Glu Uncertain significance ★ ⚠ same residue
- APOE p.Arg43Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- APOE p.Arg246Pro Uncertain significance ★★ same condition
- APOE p.Arg56His Uncertain significance ★★ ⚠ same condition
- APOE p.Gln119Pro Uncertain significance ★★ same condition
- APOE p.Gln181His Uncertain significance ★★ ⚠ same condition
- APOE p.Ser112Tyr Uncertain significance ★★ ⚠ same condition
- APOE p.Trp294Cys Uncertain significance ★★ ⚠ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/apoe-p-asp171 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown