TRPV1 p.Pro87=
c.261A>G · rs201938892 · VCV755331
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0814%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.275 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 0.14 | GERP -2.9 |
| Overall | ||
| CADD | 1.046 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0814%
European (non-Finnish) · 960/1,179,636 alleles
Filtering AF
0.0771%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0753%
Overall
0.0614%
990/1,613,290 alleles · ultra-rare
exomes 948/1,461,162 · genomes 42/152,128 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0814% | 1,229 |
| Remaining individualsnot grpmax-eligible | 0.0304% | 3,286 |
| African / African-American | 0.012% | 8,324 |
| Admixed American | 0.00333% | 29,986 |
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
- TRPV1
- Protein
- p.Pro87=
- Coding
- c.261A>G
- MANE Select
- NM_080704
- dbSNP
- rs201938892
- Type
- single nucleotide variant
- Location
- chr17:3592090 (GRCh38)
- Gene constraint
- LOEUF 1.257 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.49 · 16 PDB
Similar variants
- TRPV1 c.284+9G>A Benign ★★ same type
- TRPV1 p.Pro60= Benign ★★ same type
- TRPV1 p.Thr219Ala Benign ★★ same type
- TRPV1 p.Thr505Ala Benign ★★ same type
- TRPV1 p.Thr612= Benign ★★ same type
- TRPV1 p.Thr612Met Likely benign ★★ same type
- TRPV1 p.Asn331Lys Likely pathogenic ★ same type
- TRPV1 p.Ala104Ser 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/trpv1-p-pro87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown