ADRB3 p.Pro18=
c.54C>G · rs202143668 · VCV715579
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.316%, afr)
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 0.27 | GERP -3.1, phastCons 0.97 |
| Overall | ||
| CADD | 5.459 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.316%
African / African-American · 237/75,002 alleles
Filtering AF
0.283%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.27%
Overall
0.0392%
631/1,607,800 alleles · rare
exomes 447/1,455,444 · genomes 184/152,356 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.316% | 316 |
| Middle Eastern | 0.314% | 319 |
| Admixed American | 0.19% | 526 |
| Remaining individualsnot grpmax-eligible | 0.117% | 853 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| European (non-Finnish) | 0.0156% | 6,404 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0034% | 29,444 |
| South Asian | 0.00332% | 30,112 |
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
- ADRB3
- Protein
- p.Pro18=
- Coding
- c.54C>G
- MANE Select
- NM_000025
- dbSNP
- rs202143668
- Type
- single nucleotide variant
- Location
- chr8:37966416 (GRCh38)
- Gene constraint
- LOEUF 1.952 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.41 · 2 PDB
Similar variants
- ADRB3 p.Asn338Ser Uncertain significance ★★ ⚠ same type
- ADRB3 p.Lys151Arg Uncertain significance ★★ ⚠ same type
- ADRB3 c.1205+14G>T Benign ★★ same type
- ADRB3 c.1206-96A>G Benign ★★ same type
- ADRB3 c.*250G>C Benign ★★ same type
- ADRB3 p.Arg353Cys Benign ★★ ⚠ same type
- ADRB3 p.Trp64Arg Benign ★★ same type
- ADRB3 p.Ala130Thr 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/adrb3-p-pro18 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown