TLR7 p.Ala288=
c.864G>A · rs368187775 · VCV2185430
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.1%, sas)
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 -2.4 | GERP -4.4 |
| Overall | ||
| CADD | 0.587 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.1%
South Asian · 57/56,816 alleles
Filtering AF
0.0794%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.072%
Overall
0.00537%
65/1,210,064 alleles · rare
exomes 62/1,098,133 · genomes 3/111,931 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.1% | 997 |
| Remaining individualsnot grpmax-eligible | 0.0063% | 15,872 |
| European (non-Finnish) | 0.000559% | 179,047 |
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.Ala288=
- Coding
- c.864G>A
- MANE Select
- NM_016562
- dbSNP
- rs368187775
- Type
- single nucleotide variant
- Location
- chrX:12886372 (GRCh38)
- Structure
- AlphaFold pLDDT 87.60 · 1 PDB
Similar variants
- TLR7 p.Ala288Thr Uncertain significance ★ ⚠ same residue
- TLR7 p.Ala288Val Uncertain significance ★ ⚠ same residue
- 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
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-ala288 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown