TLR1 p.Pro181=
c.543T>C · rs973046025 · VCV3058426
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00836%, amr)
Conditions
1
TLR1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -7.3 | |
| Overall | ||
| CADD | 0.336 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00836%
Admixed American · 5/59,844 alleles
Filtering AF
0.00324%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00207%
Overall
0.000372%
6/1,612,416 alleles · very rare
exomes 4/1,460,238 · genomes 2/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00836% | 11,969 |
| European (non-Finnish) | 8.48e-05% | 1,179,020 |
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
- TLR1
- Protein
- p.Pro181=
- Coding
- c.543T>C
- MANE Select
- NM_003263
- dbSNP
- rs973046025
- Type
- single nucleotide variant
- Location
- chr4:38798289 (GRCh38)
- Gene constraint
- LOEUF 1.348 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.03 · 6 PDB
- Residue 181
- a turn
Disease context
TLR1-related disorder
Similar variants
- TLR1 p.Ala588= Likely benign same condition
- TLR1 p.Arg31Gly Likely benign ⚠ same condition
- TLR1 p.Arg80Thr Benign same condition
- TLR1 p.His305Leu Benign same condition
- TLR1 p.His38= Benign same condition
- TLR1 p.Leu443Ile Likely benign same condition
- TLR1 p.Leu71= Likely benign same condition
- TLR1 p.Lys107= Likely benign 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/tlr1-p-pro181 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown