AIM2 p.Pro250=
c.750G>T · rs34654901 · VCV780268
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.92%, afr)
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 -11 | GERP -2.8 |
| Overall | ||
| CADD | 0.122 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.92%
African / African-American · 2,181/74,728 alleles
Filtering AF
2.82%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.78%
Overall
0.151%
2,433/1,610,104 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.92% | 34 |
| Admixed American | 0.193% | 518 |
| Middle Eastern | 0.182% | 549 |
| Remaining individualsnot grpmax-eligible | 0.159% | 630 |
| South Asian | 0.00554% | 18,039 |
| European (non-Finnish) | 0.00187% | 53,554 |
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.Pro250=
- Coding
- c.750G>T
- MANE Select
- NM_004833
- dbSNP
- rs34654901
- Type
- single nucleotide variant
- Location
- chr1:159065976 (GRCh38)
- Gene constraint
- LOEUF 1.421 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.18 · 6 PDB
- Residue 250
- the hin-200 domain; an α-helix
Similar variants
- AIM2 c.396+6A>T Benign ★★ same type
- AIM2 p.Glu83= 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-pro250 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown