ADRB2 p.Leu413=
c.1239G>A · rs1042720 · VCV1256688
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 61.2%, 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 0.78 | GERP -5.1, phastCons 1 |
| Overall | ||
| CADD | 3.889 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
61.2%
East Asian · 26,825/43,800 alleles
Filtering AF
60.6%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 60.4%
Overall
34.6%
539,791/1,558,986 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 61.2% | 2 |
| African / African-American | 54.2% | 2 |
| South Asian | 47.8% | 2 |
| Admixed American | 46.2% | 2 |
| Middle Eastern | 44.3% | 2 |
| Remaining individualsnot grpmax-eligible | 36.7% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 33.7% | 3 |
| European (non-Finnish) | 31.2% | 3 |
| Finnishnot grpmax-eligible | 27.9% | 4 |
| Amishnot grpmax-eligible | 26.9% | 4 |
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.Leu413=
- Coding
- c.1239G>A
- MANE Select
- NM_000024
- dbSNP
- rs1042720
- Type
- single nucleotide variant
- Location
- chr5:148828070 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.74 · 150 PDB
- Residue 413
- the 'disordered' region
Similar variants
- ADRB2 p.Arg175= Benign ★★ same type
- ADRB2 p.Gly351= 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-leu413 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown