ADORA1 p.Pro2=
c.6G>A · rs61731145 · VCV716278
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.65%, 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 0.75 | GERP -1.9, phastCons 1 |
| Overall | ||
| CADD | 14.36 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.65%
African / African-American · 1,238/74,892 alleles
Filtering AF
1.58%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.55%
Overall
0.0887%
1,414/1,594,848 alleles · low-frequency
exomes 706/1,442,606 · genomes 708/152,242 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.65% | 60 |
| Remaining individualsnot grpmax-eligible | 0.121% | 825 |
| Admixed American | 0.112% | 889 |
| Middle Eastern | 0.0836% | 1,196 |
| South Asian | 0.0101% | 9,915 |
| European (non-Finnish) | 0.00171% | 58,638 |
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
- ADORA1
- Protein
- p.Pro2=
- Coding
- c.6G>A
- MANE Select
- NM_000674
- dbSNP
- rs61731145
- Type
- single nucleotide variant
- Location
- chr1:203128847 (GRCh38)
- Gene constraint
- LOEUF 0.598 · pLI 0.86 (gnomAD)
- Structure
- AlphaFold pLDDT 92.60 · 5 PDB
Similar variants
- ADORA1 p.Ala125Val Conflicting classifications of pathogenicity ★ ⚠ same type
- ADORA1 p.Ala155Asp Uncertain significance ★ ⚠ same type
- ADORA1 p.Ala155Thr Uncertain significance ★ ⚠ same type
- ADORA1 p.Ala158Ser Uncertain significance ★ ⚠ same type
- ADORA1 p.Ala233Thr Uncertain significance ★ ⚠ same type
- ADORA1 p.Ala312Val Uncertain significance ★ ⚠ same type
- ADORA1 p.Arg154Trp Uncertain significance ★ ⚠ same type
- ADORA1 p.Arg208Cys 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/adora1-p-pro2 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown