IL18 p.Ser72=
c.216T>G · rs780550512 · VCV749979
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0834%, amr)
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 0.095 | GERP -1.9 |
| Overall | ||
| CADD | 2.64 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0834%
Admixed American · 46/55,146 alleles
Filtering AF
0.0642%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0575%
Overall
0.00288%
46/1,598,358 alleles · ultra-rare
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
- IL18
- Protein
- p.Ser72=
- Coding
- c.216T>G
- MANE Select
- NM_001562
- dbSNP
- rs780550512
- Type
- single nucleotide variant
- Location
- chr11:112150082 (GRCh38)
- Gene constraint
- LOEUF 1.867 · pLI 0.32 (gnomAD)
- Structure
- AlphaFold pLDDT 89.24 · 20 PDB
- Residue 72
- a functional site (cleavage; by casp3); an α-helix
Similar variants
- IL18 p.Arg167Lys Uncertain significance ★ ⚠ same type
- IL18 p.Asp36Asn Uncertain significance ★ ⚠ same type
- IL18 p.Leu110Ile Uncertain significance ★ ⚠ same type
- IL18 p.Met122Val Uncertain significance ★ ⚠ same type
- IL18 p.Met149Thr Uncertain significance ★ ⚠ same type
- IL18 p.Phe25Cys Uncertain significance ★ ⚠ same type
- IL18 p.Phe66Cys Uncertain significance ★ ⚠ same type
- IL18 c.80-5C>A Benign ★ 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/il18-p-ser72 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown