ARRB1 p.Ser341=
c.1023C>T · VCV3948829
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0224%, amr)
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 -3.3 | GERP -4.2 |
| Overall | ||
| CADD | 0.717 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0224%
Admixed American · 13/58,122 alleles
Filtering AF
0.0131%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0105%
Overall
0.00149%
24/1,608,892 alleles · ultra-rare
exomes 20/1,456,758 · genomes 4/152,134 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0224% | 4,471 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,114 |
| East Asian | 0.00223% | 44,830 |
| African / African-American | 0.00134% | 74,428 |
| European (non-Finnish) | 0.000594% | 168,370 |
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
- ARRB1
- Protein
- p.Ser341=
- Coding
- c.1023C>T
- MANE Select
- NM_004041
- Type
- single nucleotide variant
- Location
- chr11:75268959 (GRCh38)
- Gene constraint
- LOEUF 0.611 · pLI 0.15 (gnomAD)
- Structure
- AlphaFold pLDDT 82.44 · 35 PDB
- Residue 341
- the 'interaction with traf6' region; a β-strand
Similar variants
- ARRB1 p.Ala151Thr Uncertain significance ★ ⚠ same type
- ARRB1 p.Ala263Thr Uncertain significance ★ ⚠ same type
- ARRB1 p.Ala82Ser Uncertain significance ★ ⚠ same type
- ARRB1 p.Ala82Thr Uncertain significance ★ ⚠ same type
- ARRB1 p.Arg177Ser Uncertain significance ★ ⚠ same type
- ARRB1 p.Arg282Gln Uncertain significance ★ ⚠ same type
- ARRB1 p.Arg312Cys Uncertain significance ★ ⚠ same type
- ARRB1 p.Arg363Gln 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/arrb1-p-ser341 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown