AIM2 p.Glu83=
c.249G>A · rs34479821 · VCV775617
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.96%, afr) — too common for a highly-penetrant pathogenic allele
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 -4.7 | GERP -2.6 |
| Overall | ||
| CADD | 0.446 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.96%
African / African-American · 4,470/75,008 alleles
Filtering AF
5.81%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.75%
Overall
0.439%
7,080/1,614,094 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.96% | 17 |
| Middle Eastern | 4.49% | 22 |
| Remaining individualsnot grpmax-eligible | 0.771% | 130 |
| Admixed American | 0.547% | 183 |
| South Asian | 0.498% | 201 |
| Ashkenazi Jewishnot grpmax-eligible | 0.382% | 262 |
| European (non-Finnish) | 0.0804% | 1,243 |
| Finnishnot grpmax-eligible | 0.0125% | 8,004 |
| East Asian | 0.00891% | 11,222 |
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
- AIM2
- Protein
- p.Glu83=
- Coding
- c.249G>A
- MANE Select
- NM_004833
- dbSNP
- rs34479821
- Type
- single nucleotide variant
- Location
- chr1:159073251 (GRCh38)
- Gene constraint
- LOEUF 1.421 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.18 · 6 PDB
- Residue 83
- the pyrin domain; an α-helix
Similar variants
- AIM2 c.396+6A>T Benign ★★ same type
- AIM2 p.Pro250= Benign ★★ same type
- AIM2 p.Ala112Ser Uncertain significance ★ ⚠ same type
- AIM2 p.Ala230Val Uncertain significance ★ ⚠ same type
- AIM2 p.Arg115Gly Uncertain significance ★ ⚠ same type
- AIM2 p.Arg205Thr Uncertain significance ★ ⚠ same type
- AIM2 p.Arg211Ile Uncertain significance ★ ⚠ same type
- AIM2 p.Arg226His 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/aim2-p-glu83 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown