APOA4 p.Ala271=
c.813C>T · rs1042885652 · VCV3001093
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
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 -2.8 |
| Overall | ||
| CADD | 1.039 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,868 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000434%
7/1,613,010 alleles · very rare
exomes 7/1,460,716 · genomes 0/152,294 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00223% | 44,868 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,502 |
| African / African-American | 0.00133% | 75,046 |
| European (non-Finnish) | 0.000339% | 295,004 |
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
- APOA4
- Protein
- p.Ala271=
- Coding
- c.813C>T
- MANE Select
- NM_000482
- dbSNP
- rs1042885652
- Type
- single nucleotide variant
- Location
- chr11:116821245 (GRCh38)
- Gene constraint
- LOEUF 0.985 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.14 · 2 PDB
- Residue 271
- the '13 x 22 aa approximate tandem repeats' region; an α-helix
Similar variants
- APOA4 p.Ala172Thr Uncertain significance ★★ ⚠ same type
- APOA4 p.Ala333Val Uncertain significance ★★ ⚠ same type
- APOA4 p.Ala60Asp Uncertain significance ★★ ⚠ same type
- APOA4 p.Arg166Ser Uncertain significance ★★ ⚠ same type
- APOA4 p.Arg275Cys Uncertain significance ★★ ⚠ same type
- APOA4 p.Gln50Arg Uncertain significance ★★ ⚠ same type
- APOA4 p.Gln50Lys Uncertain significance ★★ ⚠ same type
- APOA4 p.Glu283Ala 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/apoa4-p-ala271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown