AGTR2 p.Pro201=
c.603T>C · VCV4952473
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00905%, 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 -0.55 | GERP -1.1, phastCons 0.092 |
| Overall | ||
| CADD | 7.126 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00905%
European (non-Finnish) · 81/895,189 alleles
Filtering AF
0.00742%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00678%
Overall
0.00702%
85/1,209,970 alleles · very rare
exomes 83/1,097,913 · genomes 2/112,057 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00905% | 11,052 |
| Remaining individualsnot grpmax-eligible | 0.00631% | 15,860 |
| African / African-American | 0.00175% | 57,241 |
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
- AGTR2
- Protein
- p.Pro201=
- Coding
- c.603T>C
- MANE Select
- NM_000686
- Type
- single nucleotide variant
- Location
- chrX:116172883 (GRCh38)
- Structure
- AlphaFold pLDDT 82.34 · 7 PDB
- Residue 201
- an α-helix
Similar variants
- AGTR2 p.Pro201Ser Uncertain significance ★ ⚠ same residue
- AGTR2 p.His237Gln Uncertain significance ★★ ⚠ same type
- AGTR2 p.Arg248Lys Benign ★★ same type
- AGTR2 p.Gly21Val Benign/Likely benign ★★ same type
- AGTR2 p.Ile337= Benign ★★ same type
- AGTR2 p.Leu166= Benign ★★ same type
- AGTR2 p.Ala171Val Uncertain significance ★ ⚠ same type
- AGTR2 p.Ala212Gly 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/agtr2-p-pro201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown