STAT1 p.Gln167=
c.501A>G · rs1167103580 · VCV897516
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 0.3 | GERP 0.73, phastCons 0.99 |
| Overall | ||
| CADD | 6.791 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00167% | 60,016 |
| African / African-American | 0.00133% | 75,026 |
| European (non-Finnish) | 8.48e-05% | 1,179,880 |
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
- STAT1
- Protein
- p.Gln167=
- Coding
- c.501A>G
- MANE Select
- NM_007315
- dbSNP
- rs1167103580
- Type
- single nucleotide variant
- Location
- chr2:190999666 (GRCh38)
- Gene constraint
- LOEUF 0.271 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.78 · 10 PDB
- Residue 167
- an α-helix
Disease context
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: immunodeficiency 31BMendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
For STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Infancy
Similar variants
- STAT1 p.Gln167His Uncertain significance ★ ⚠ same residue
- STAT1 p.Gln167Pro Uncertain significance ★ ⚠ same residue
- STAT1 p.Ala267Val Pathogenic ★★ ⚠ same condition
- STAT1 p.Arg274Gln Pathogenic ★★ ⚠ same condition
- STAT1 p.Arg274Gly Pathogenic/Likely pathogenic ★★ same condition
- STAT1 p.Arg274Trp Pathogenic ★★ same condition
- STAT1 p.Asp171Asn Likely pathogenic ★★ ⚠ same condition
- STAT1 p.Asp292Glu Likely pathogenic ★★ ⚠ same condition
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/stat1-p-gln167 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown