AGTR1 p.Ala353=
c.1059A>C · rs1576542829 · VCV748823
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, 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 -4.8 | GERP -3.5 |
| Overall | ||
| CADD | 0.192 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,032 alleles
Overall
0.000137%
2/1,461,868 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 75,032 |
| European (non-Finnish) | 8.47e-05% | 1,180,025 |
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.Ala353=
- Coding
- c.1059A>C
- MANE Select
- NM_000685
- dbSNP
- rs1576542829
- Type
- single nucleotide variant
- Location
- chr3:148742094 (GRCh38)
- Gene constraint
- LOEUF 1.113 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.55 · 14 PDB
- Residue 353
- the 'disordered' region
Similar variants
- 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
- AGTR1 p.Glu185Lys 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-ala353 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown