ADRB2 p.Pro330=
c.990A>C · rs145066318 · VCV785003
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00254%, nfe)
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 -8.9 | GERP -5.3 |
| Overall | ||
| CADD | 1.115 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00254%
European (non-Finnish) · 30/1,180,030 alleles
Filtering AF
0.0018%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00156%
Overall
0.00219%
32/1,461,892 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00254% | 39,334 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,510 |
| Finnishnot grpmax-eligible | 0.00156% | 64,034 |
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.Pro330=
- Coding
- c.990A>C
- MANE Select
- NM_000024
- dbSNP
- rs145066318
- Type
- single nucleotide variant
- Location
- chr5:148827821 (GRCh38)
- Gene constraint
- LOEUF 0.901 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.74 · 150 PDB
- Residue 330
- an α-helix
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-pro330 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown