ADRB1 p.Pro38=
c.114G>A · VCV4909732
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.845%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.11 | GERP -5.4, phastCons 0.002 |
| Overall | ||
| CADD | 8.928 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.845%
South Asian · 637/75,378 alleles
Filtering AF
0.791%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.769%
Overall
0.0806%
1,185/1,469,948 alleles · rare
exomes 1,112/1,317,868 · genomes 73/152,080 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.845% | 118 |
| Middle Eastern | 0.158% | 635 |
| Remaining individualsnot grpmax-eligible | 0.074% | 1,351 |
| European (non-Finnish) | 0.0437% | 2,291 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0117% | 8,529 |
| Admixed American | 0.00753% | 13,289 |
| African / African-American | 0.00587% | 17,043 |
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
- ADRB1
- Protein
- p.Pro38=
- Coding
- c.114G>A
- MANE Select
- NM_000684
- Type
- single nucleotide variant
- Location
- chr10:114044246 (GRCh38)
- Gene constraint
- LOEUF 1.939 · pLI 0.11 (gnomAD)
- Structure
- AlphaFold pLDDT 77.01 · 7 PDB
Similar variants
- ADRB1 p.Asn76= Benign/Likely benign ★★ same type
- ADRB1 p.Asp382Gly Benign ★★ same type
- ADRB1 p.Cys180= Benign ★★ same type
- ADRB1 p.Leu105= Benign ★★ same type
- ADRB1 p.Ser49Gly Likely benign ★★ same type
- ADRB1 p.Val5Ala Benign ★★ same type
- ADRB1 p.Val69= Benign ★★ same type
- ADRB1 p.Ala227Ser 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/adrb1-p-pro38 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown