IL33 p.Val91=
c.273G>C · rs148426449 · VCV727097
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.321%, 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 -0.55 | GERP -1.7 |
| Overall | ||
| CADD | 0.389 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.321%
African / African-American · 241/75,010 alleles
Filtering AF
0.288%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.275%
Overall
0.017%
274/1,613,998 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.321% | 311 |
| Admixed American | 0.015% | 6,667 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,813 |
| European (non-Finnish) | 0.00136% | 73,746 |
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
- IL33
- Protein
- p.Val91=
- Coding
- c.273G>C
- MANE Select
- NM_033439
- dbSNP
- rs148426449
- Type
- single nucleotide variant
- Location
- chr9:6251195 (GRCh38)
- Gene constraint
- LOEUF 1.684 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.91 · 5 PDB
- Residue 91
- the 'interaction with rela' region
Similar variants
- IL33 p.His201Gln Benign ★★ same type
- IL33 p.Ile263Met Benign ★★ same type
- IL33 p.Ala137Thr Uncertain significance ★ ⚠ same type
- IL33 p.Ala15Thr Uncertain significance ★ ⚠ same type
- IL33 p.Ala216Thr Uncertain significance ★ ⚠ same type
- IL33 p.Ala57Thr Uncertain significance ★ ⚠ same type
- IL33 p.Arg48Cys Uncertain significance ★ same type
- IL33 p.Asp131Asn 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/il33-p-val91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown