ADRB1 p.Phe130=
c.390C>T · VCV3905555
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000763%, 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 3.2 | GERP -5.8, phastCons 1 |
| Overall | ||
| CADD | 14.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000763%
European (non-Finnish) · 9/1,179,978 alleles
Filtering AF
0.000359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00026%
Overall
0.000558%
9/1,613,816 alleles · very rare
exomes 9/1,461,494 · genomes 0/152,322 · joint denominator
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.Phe130=
- Coding
- c.390C>T
- MANE Select
- NM_000684
- Type
- single nucleotide variant
- Location
- chr10:114044522 (GRCh38)
- Gene constraint
- LOEUF 1.939 · pLI 0.11 (gnomAD)
- Structure
- AlphaFold pLDDT 77.01 · 7 PDB
- Residue 130
- an α-helix
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-phe130 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown