UCP3 p.Phe291=
c.873C>T · rs368039089 · VCV3033703
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0825%, mid)
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 -1.1 | GERP -4.1 |
| Overall | ||
| CADD | 8.192 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0825%
Middle Eastern · 5/6,062 alleles
Filtering AF
0.0557%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0488%
Overall
0.007%
113/1,614,062 alleles · ultra-rare
exomes 104/1,461,870 · genomes 9/152,192 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0825% | 1,212 |
| East Asian | 0.0758% | 1,320 |
| Remaining individualsnot grpmax-eligible | 0.0432% | 2,315 |
| European (non-Finnish) | 0.00364% | 27,442 |
| South Asian | 0.0022% | 45,537 |
| Admixed American | 0.00167% | 60,008 |
| African / African-American | 0.00133% | 74,986 |
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
- UCP3
- Protein
- p.Phe291=
- Coding
- c.873C>T
- MANE Select
- NM_003356
- dbSNP
- rs368039089
- Type
- single nucleotide variant
- Location
- chr11:74001478 (GRCh38)
- Gene constraint
- LOEUF 1.2 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.65
- Residue 291
- the 'purine nucleotide binding' region
Similar variants
- UCP3 p.Phe291Ser 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-phe291 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown