TLR2 p.Thr65=
c.195C>T · rs150163172 · VCV3041175
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.1%, amr)
Conditions
1
TLR2-related disorder
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 0.38 | GERP -1.5 |
| Overall | ||
| CADD | 7.022 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.1%
Admixed American · 60/59,996 alleles
Filtering AF
0.0798%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0724%
Overall
0.025%
404/1,614,030 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.1% | 1,000 |
| European (non-Finnish) | 0.0279% | 3,587 |
| Remaining individualsnot grpmax-eligible | 0.0192% | 5,207 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,604 |
| African / African-American | 0.00267% | 37,460 |
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
- TLR2
- Protein
- p.Thr65=
- Coding
- c.195C>T
- MANE Select
- NM_001318789
- dbSNP
- rs150163172
- Type
- single nucleotide variant
- Location
- chr4:153703102 (GRCh38)
- Gene constraint
- LOEUF 1.432 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.87 · 7 PDB
Disease context
TLR2-related disorder
Similar variants
- TLR2 p.Ala26Val Likely benign same condition
- TLR2 p.Ala400= Benign same condition
- TLR2 p.Asn729Ser Benign same condition
- TLR2 p.Leu563= Benign same condition
- TLR2 p.Leu81Pro Likely benign same condition
- TLR2 p.Phe707= Benign same condition
- TLR2 p.Pro456= Likely benign same condition
- TLR2 p.Thr411Ile 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/tlr2-p-thr65 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown