UCP3 p.Pro237=
c.711G>A · rs150067246 · VCV2764631
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0666%, 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 -12 | GERP -1.8 |
| Overall | ||
| CADD | 0.818 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0666%
African / African-American · 50/75,034 alleles
Filtering AF
0.0519%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0467%
Overall
0.0165%
266/1,614,126 alleles · ultra-rare
exomes 229/1,461,832 · genomes 37/152,294 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0666% | 1,501 |
| Middle Eastern | 0.0495% | 2,021 |
| East Asian | 0.0356% | 2,805 |
| European (non-Finnish) | 0.0151% | 6,629 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,945 |
| South Asian | 0.00769% | 13,012 |
| Admixed American | 0.00333% | 30,012 |
| Finnishnot grpmax-eligible | 0.00156% | 63,990 |
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
- UCP3
- Protein
- p.Pro237=
- Coding
- c.711G>A
- MANE Select
- NM_003356
- dbSNP
- rs150067246
- Type
- single nucleotide variant
- Location
- chr11:74003940 (GRCh38)
- Gene constraint
- LOEUF 1.2 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.65
Similar variants
- UCP3 p.Pro237Leu Uncertain significance ★★ ⚠ same residue
- UCP3 p.Ala111Val Uncertain significance ★★ ⚠ same type
- UCP3 p.Ala92Thr Uncertain significance ★★ ⚠ same type
- UCP3 p.Arg143Gln Uncertain significance ★★ ⚠ same type
- UCP3 p.Arg244Gln Uncertain significance ★★ ⚠ same type
- UCP3 p.Arg244Trp Uncertain significance ★★ ⚠ same type
- UCP3 p.Arg54Trp Uncertain significance ★★ ⚠ same type
- UCP3 p.Arg70Trp 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/ucp3-p-pro237 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown