ADRB2 p.His22=
c.66C>T · rs33957121 · VCV703863
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.38%, 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 -0.17 | GERP -3.4 |
| Overall | ||
| CADD | 6.581 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.38%
African / African-American · 1,036/75,060 alleles
Filtering AF
1.31%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.28%
Overall
0.0688%
1,111/1,614,032 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.38% | 72 |
| Remaining individualsnot grpmax-eligible | 0.0688% | 1,453 |
| Admixed American | 0.0416% | 2,402 |
| Middle Eastern | 0.0169% | 5,922 |
| South Asian | 0.0022% | 45,535 |
| European (non-Finnish) | 0.000339% | 295,012 |
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.His22=
- Coding
- c.66C>T
- MANE Select
- NM_000024
- dbSNP
- rs33957121
- Type
- single nucleotide variant
- Location
- chr5:148826897 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.74 · 150 PDB
Similar variants
- ADRB2 p.Arg175= Benign ★★ same type
- 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
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-his22 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown