ARRB2 p.Ile306=
c.918C>T · rs749565343 · VCV2589182
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0446%, eas)
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 -10 | GERP -3.3 |
| Overall | ||
| CADD | 0.395 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0446%
East Asian · 20/44,820 alleles
Filtering AF
0.0295%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0246%
Overall
0.00236%
38/1,611,364 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0446% | 2,241 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,400 |
| African / African-American | 0.00134% | 74,786 |
| European (non-Finnish) | 0.00127% | 78,587 |
| South Asian | 0.0011% | 90,716 |
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.Ile306=
- Coding
- c.918C>T
- MANE Select
- NM_004313
- dbSNP
- rs749565343
- Type
- single nucleotide variant
- Location
- chr17:4720216 (GRCh38)
- Gene constraint
- LOEUF 0.562 · pLI 0.60 (gnomAD)
- Structure
- AlphaFold pLDDT 83.97 · 1 PDB
- Residue 306
- the 'interaction with traf6' region
Similar variants
- ARRB2 p.Ile82= Benign ★★ same type
- 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
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-ile306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown