TLR7 p.Pro147=
c.441G>T · rs200048239 · VCV2121142
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0227%, afr)
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 0.056 | GERP -4.2, phastCons 0.001 |
| Overall | ||
| CADD | 0.434 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0227%
African / African-American · 13/57,224 alleles
Filtering AF
0.0134%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0106%
Overall
0.00132%
16/1,210,226 alleles · ultra-rare
exomes 13/1,098,105 · genomes 3/112,121 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0227% | 4,402 |
| Remaining individualsnot grpmax-eligible | 0.0042% | 23,802 |
| Admixed American | 0.00218% | 45,782 |
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.Pro147=
- Coding
- c.441G>T
- MANE Select
- NM_016562
- dbSNP
- rs200048239
- Type
- single nucleotide variant
- Location
- chrX:12885949 (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-pro147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown