AGTR1 p.Pro192=
c.576G>A · rs766645736 · VCV764781
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0329%, mid)
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 -2.4 | GERP -3.2 |
| Overall | ||
| CADD | 3.457 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0329%
Middle Eastern · 2/6,084 alleles
Filtering AF
0.0058%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00295%
Overall
0.00409%
66/1,613,908 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0329% | 3,042 |
| Admixed American | 0.01% | 9,997 |
| Finnishnot grpmax-eligible | 0.00625% | 16,005 |
| South Asian | 0.00549% | 18,212 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,829 |
| European (non-Finnish) | 0.0039% | 25,652 |
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
- AGTR1
- Protein
- p.Pro192=
- Coding
- c.576G>A
- MANE Select
- NM_000685
- dbSNP
- rs766645736
- Type
- single nucleotide variant
- Location
- chr3:148741611 (GRCh38)
- Gene constraint
- LOEUF 1.113 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.55 · 14 PDB
- Residue 192
- a disulfide bond; an α-helix
Similar variants
- AGTR1 p.Pro192Leu Uncertain significance ★ ⚠ same residue
- AGTR1 p.Arg139Ter Pathogenic/Likely pathogenic ★★ same type
- AGTR1 c.-41T>G Uncertain significance ★★ same type
- AGTR1 p.Ala114Thr Uncertain significance ★★ ⚠ same type
- AGTR1 p.Arg272Cys Uncertain significance ★★ ⚠ same type
- AGTR1 p.Arg93Cys Uncertain significance ★★ same type
- AGTR1 p.Asn298Ser Uncertain significance ★★ ⚠ same type
- AGTR1 p.Asn46Lys 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/agtr1-p-pro192 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown