TLR7 p.Pro143=
c.429G>A · rs1341054327 · VCV2075456
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00217%, amr)
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 -2.9 | GERP -4.2 |
| Overall | ||
| CADD | 0.294 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00217%
Admixed American · 1/46,024 alleles
Filtering AF
8.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.5e-05%
Overall
0.00033%
4/1,211,600 alleles · very rare
exomes 4/1,097,967 · genomes 0/113,633 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00217% | 46,024 |
| European (non-Finnish) | 0.000335% | 298,456 |
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
- TLR7
- Protein
- p.Pro143=
- Coding
- c.429G>A
- MANE Select
- NM_016562
- dbSNP
- rs1341054327
- Type
- single nucleotide variant
- Location
- chrX:12885937 (GRCh38)
- Structure
- AlphaFold pLDDT 87.60 · 1 PDB
Similar variants
- TLR7 p.Arg357Cys Uncertain significance ★★ ⚠ same type
- TLR7 p.Asn159Asp Uncertain significance ★★ ⚠ same type
- TLR7 p.Asn720Ser Uncertain significance ★★ ⚠ same type
- TLR7 p.Asp198Gly Uncertain significance ★★ ⚠ same type
- TLR7 p.Asp438Val Uncertain significance ★★ ⚠ same type
- TLR7 p.Cys889Tyr Uncertain significance ★★ ⚠ same type
- TLR7 p.Gln117Lys Uncertain significance ★★ ⚠ same type
- TLR7 p.Gln823Glu 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/tlr7-p-pro143 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown