Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.09%, 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 0.12 | GERP -3.2, phastCons 0.76 |
| Overall | ||
| CADD | 14.96 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.09%
African / African-American · 816/75,048 alleles
Filtering AF
1.03%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1%
Overall
0.0731%
1,180/1,614,084 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.09% | 92 |
| Middle Eastern | 0.299% | 334 |
| Admixed American | 0.122% | 822 |
| Remaining individualsnot grpmax-eligible | 0.106% | 947 |
| European (non-Finnish) | 0.0171% | 5,842 |
| South Asian | 0.00329% | 30,359 |
| Finnishnot grpmax-eligible | 0.00312% | 32,006 |
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
- ARRB2
- Protein
- p.Ile82=
- Coding
- c.246C>T
- MANE Select
- NM_004313
- dbSNP
- rs9915175
- Type
- single nucleotide variant
- Location
- chr17:4716497 (GRCh38)
- Gene constraint
- LOEUF 0.562 · pLI 0.60 (gnomAD)
- Structure
- AlphaFold pLDDT 83.97 · 1 PDB
Similar variants
- ARRB2 p.Leu288= Benign ★★ same type
- ARRB2 p.Ala362Thr Uncertain significance ★ ⚠ same type
- ARRB2 p.Arg100Cys Uncertain significance ★ ⚠ same type
- ARRB2 p.Arg148Gln Uncertain significance ★ ⚠ same type
- ARRB2 p.Arg189Cys Uncertain significance ★ ⚠ same type
- ARRB2 p.Arg196Gln Uncertain significance ★ ⚠ same type
- ARRB2 p.Arg26Gln Uncertain significance ★ ⚠ same type
- ARRB2 p.Arg283Trp 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/arrb2-p-ile82 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown