APOC2 p.Thr62=
c.186A>G · VCV3638814
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.68 | GERP -3.5 |
| Overall | ||
| CADD | 2.31 | 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
- APOC2
- Protein
- p.Thr62=
- Coding
- c.186A>G
- MANE Select
- NM_000483
- Type
- single nucleotide variant
- Location
- chr19:44948831 (GRCh38)
- Gene constraint
- LOEUF 1.054 · pLI 0.07 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 65.81 · 4 PDB
- Residue 62
- a β-strand
Similar variants
- APOC2 p.Gln25Ter Likely pathogenic ★★ same type
- APOC2 p.Gln92Ter Pathogenic/Likely pathogenic ★★ same type
- APOC2 p.Ala54Asp Uncertain significance ★★ ⚠ same type
- APOC2 p.Ala55Thr Uncertain significance ★★ ⚠ same type
- APOC2 p.Ser76Ile Uncertain significance ★★ ⚠ same type
- APOC2 p.Thr23Ile Uncertain significance ★★ ⚠ same type
- APOC2 p.Thr86Arg Uncertain significance ★★ ⚠ same type
- APOC2 p.Val67Ile Uncertain significance ★★ ⚠ same type
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/apoc2-p-thr62 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown