ADRB2 p.Arg175=
c.523C>A · rs1042718 · VCV1264227
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 36.5%, eas) — too common for a highly-penetrant pathogenic allele
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 1.8 | GERP -1.5, phastCons 1 |
| Overall | ||
| CADD | 10.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
36.5%
East Asian · 16,386/44,858 alleles
Filtering AF
36.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 35.9%
Overall
18.9%
304,681/1,613,954 alleles · common
exomes 269,780/1,461,848 · genomes 34,901/152,106 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 36.5% | 3 |
| Admixed American | 35.1% | 3 |
| African / African-American | 32.3% | 3 |
| Amishnot grpmax-eligible | 31.8% | 3 |
| South Asian | 29.4% | 3 |
| Middle Eastern | 26.8% | 4 |
| Remaining individualsnot grpmax-eligible | 20.2% | 5 |
| Ashkenazi Jewishnot grpmax-eligible | 16.3% | 6 |
| European (non-Finnish) | 16% | 6 |
| Finnishnot grpmax-eligible | 13% | 8 |
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
- ADRB2
- Protein
- p.Arg175=
- Coding
- c.523C>A
- MANE Select
- NM_000024
- dbSNP
- rs1042718
- Type
- single nucleotide variant
- Location
- chr5:148827354 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.74 · 150 PDB
Similar variants
- ADRB2 p.Gly351= Benign ★★ same type
- ADRB2 p.Leu413= Benign ★★ same type
- ADRB2 p.Leu84= Benign ★★ same type
- ADRB2 p.Tyr366= Benign/Likely benign ★★ same type
- ADRB2 p.Ala19Glu Uncertain significance ★ ⚠ same type
- ADRB2 p.Arg328Trp Uncertain significance ★ same type
- ADRB2 p.Gln3Lys Uncertain significance ★ ⚠ same type
- ADRB2 p.Glu62Asp 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/adrb2-p-arg175 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown