UCP3 p.Ala24=
c.72C>T · rs70965455 · VCV773827
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.586%, eas)
Conditions
1
obesity disorder
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 5.6 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 11.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.586%
East Asian · 263/44,892 alleles
Filtering AF
0.528%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.505%
Overall
0.0268%
432/1,614,202 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.586% | 171 |
| Remaining individualsnot grpmax-eligible | 0.214% | 467 |
| South Asian | 0.022% | 4,555 |
| Admixed American | 0.0167% | 6,004 |
| African / African-American | 0.00266% | 37,524 |
| European (non-Finnish) | 0.000254% | 393,342 |
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.Ala24=
- Coding
- c.72C>T
- MANE Select
- NM_003356
- dbSNP
- rs70965455
- Type
- single nucleotide variant
- Location
- chr11:74006971 (GRCh38)
- Gene constraint
- LOEUF 1.2 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.65
Similar variants
- UCP3 p.Ala24Ser Uncertain significance ⚠ same residue
- UCP3 p.Ala92Thr Uncertain significance ★★ ⚠ same condition
- UCP3 p.Asp164Asn Uncertain significance ★★ ⚠ same condition
- UCP3 p.Met129Thr Uncertain significance ★★ same condition
- UCP3 p.Met68Val Uncertain significance ★★ ⚠ same condition
- UCP3 c.127-7C>T Benign/Likely benign ★★ same condition
- UCP3 p.Arg119Gln Likely benign ★★ same condition
- UCP3 p.Gly21= Benign/Likely benign ★★ same condition
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-ala24 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown