TLR7 p.Ala271=
c.813G>A · rs201564398 · VCV753150
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0106%, 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 -0.083 | GERP -1.4 |
| Overall | ||
| CADD | 0.862 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0106%
South Asian · 6/56,828 alleles
Filtering AF
0.00875%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00812%
Overall
0.00884%
107/1,209,912 alleles · ultra-rare
exomes 103/1,098,021 · genomes 4/111,891 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0106% | 9,471 |
| European (non-Finnish) | 0.0105% | 9,523 |
| Admixed American | 0.00437% | 22,875 |
| Finnishnot grpmax-eligible | 0.0043% | 23,259 |
| Remaining individualsnot grpmax-eligible | 0.0042% | 23,796 |
| African / African-American | 0.00175% | 57,186 |
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.Ala271=
- Coding
- c.813G>A
- MANE Select
- NM_016562
- dbSNP
- rs201564398
- Type
- single nucleotide variant
- Location
- chrX:12886321 (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-ala271 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown