TLR2 p.Asp231=
c.693T>C · rs2535420494 · VCV2655137
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -1.3 | GERP -2 |
| Overall | ||
| CADD | 0.584 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TLR2
- Protein
- p.Asp231=
- Coding
- c.693T>C
- MANE Select
- NM_001318789
- dbSNP
- rs2535420494
- Type
- single nucleotide variant
- Location
- chr4:153703600 (GRCh38)
- Gene constraint
- LOEUF 1.432 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.87 · 7 PDB
- Residue 231
- a β-strand
Similar variants
- TLR2 p.Asp231Gly Uncertain significance ★ ⚠ same residue
- TLR2 p.Arg571His Likely benign ★★ same type
- TLR2 p.Arg579His Benign ★★ same type
- TLR2 p.Gly38= Benign ★★ same type
- TLR2 p.Leu213= Benign ★★ same type
- TLR2 p.Leu542= Benign/Likely benign ★★ same type
- TLR2 p.Phe217Ser Benign/Likely benign ★★ ⚠ same type
- TLR2 p.Ala780Ser 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/tlr2-p-asp231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown