IL23R p.Pro447=
c.1341T>C · rs747337602 · VCV2902973
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.012%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.029 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.3 | GERP 1.8 |
| Overall | ||
| CADD | 1.285 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.012%
African / African-American · 9/74,880 alleles
Filtering AF
0.00624%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00468%
Overall
0.000558%
9/1,613,224 alleles · ultra-rare
exomes 5/1,461,128 · genomes 4/152,096 · joint denominator
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
- IL23R
- Protein
- p.Pro447=
- Coding
- c.1341T>C
- MANE Select
- NM_144701
- dbSNP
- rs747337602
- Type
- single nucleotide variant
- Location
- chr1:67258579 (GRCh38)
- Gene constraint
- LOEUF 0.739 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.76 · 4 PDB
Similar variants
- IL23R p.Ala531Thr Uncertain significance ★★ ⚠ same type
- IL23R p.Cys115Gly Uncertain significance ★★ ⚠ same type
- IL23R p.Cys558Arg Uncertain significance ★★ ⚠ same type
- IL23R p.Gln465Pro Uncertain significance ★★ ⚠ same type
- IL23R p.Gln564Lys Uncertain significance ★★ ⚠ same type
- IL23R p.Glu169Lys Uncertain significance ★★ ⚠ same type
- IL23R p.Glu205Val Uncertain significance ★★ ⚠ same type
- IL23R p.Glu269Gln 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/il23r-p-pro447 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown