APOC3 p.Ser95=
c.285A>T · VCV4862965
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.54 | GERP -7.5 |
| Overall | ||
| CADD | 0.135 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- APOC3
- Protein
- p.Ser95=
- Coding
- c.285A>T
- MANE Select
- NM_000040
- Type
- single nucleotide variant
- Location
- chr11:116832869 (GRCh38)
- Gene constraint
- LOEUF 1.68 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.90 · 1 PDB
- Residue 95
- 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-ser95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown