APOC3 p.Ala96=
c.288C>A · rs144573427 · VCV1797265
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.016%, afr)
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 -1.5 | GERP -6 |
| Overall | ||
| CADD | 0.305 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.016%
African / African-American · 12/74,922 alleles
Filtering AF
0.00921%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00722%
Overall
0.00093%
15/1,613,692 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.016% | 6,243 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,826 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- APOC3
- Protein
- p.Ala96=
- Coding
- c.288C>A
- MANE Select
- NM_000040
- dbSNP
- rs144573427
- Type
- single nucleotide variant
- Location
- chr11:116832872 (GRCh38)
- Gene constraint
- LOEUF 1.68 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.90 · 1 PDB
- Residue 96
- an α-helix; the 'lipid-binding' region
Similar variants
- APOC3 p.Glu24Lys Uncertain significance ★★ ⚠ same condition
- APOC3 p.Leu14Phe Uncertain significance ★★ ⚠ same condition
- APOC3 p.Val91Ile Uncertain significance ★★ ⚠ same condition
- APOC3 p.Ala16= Likely benign ★★ same condition
- APOC3 p.Ala23= Benign/Likely benign ★★ same condition
- APOC3 p.Gln33= Benign/Likely benign ★★ same condition
- APOC3 p.Gly34= Benign ★★ same condition
- APOC3 p.His38= Likely benign ★★ 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/apoc3-p-ala96 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown