AGO3 p.Pro324=
c.972G>A · rs144067198 · VCV3053137
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0974%, nfe)
Conditions
1
AGO3-related disorder
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 -0.41 | GERP -4.5, phastCons 0.001 |
| Overall | ||
| CADD | 9.666 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0974%
European (non-Finnish) · 1,147/1,177,664 alleles
Filtering AF
0.0927%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0908%
Overall
0.0788%
1,268/1,608,532 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0974% | 1,027 |
| South Asian | 0.0842% | 1,188 |
| Remaining individualsnot grpmax-eligible | 0.045% | 2,223 |
| African / African-American | 0.0121% | 8,280 |
| Admixed American | 0.00509% | 19,661 |
| Finnishnot grpmax-eligible | 0.0047% | 21,277 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00341% | 29,298 |
| East Asian | 0.00223% | 44,772 |
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
- AGO3
- Protein
- p.Pro324=
- Coding
- c.972G>A
- MANE Select
- NM_024852
- dbSNP
- rs144067198
- Type
- single nucleotide variant
- Location
- chr1:36008987 (GRCh38)
- Gene constraint
- LOEUF 0.232 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 91.93 · 2 PDB
- Residue 324
- the paz domain
Disease context
AGO3-related disorder
Similar variants
- AGO3 p.Arg426Gln Uncertain significance ★ ⚠ same condition
- AGO3 p.Thr338Ile Uncertain significance ★ ⚠ same condition
- AGO3 p.Ala597= Likely benign same condition
- AGO3 p.Gln709= Likely benign same condition
- AGO3 p.His191= Likely benign same condition
- AGO3 p.Phe747= Likely benign same condition
- AGO3 p.Arg403= Benign/Likely benign ★★ same type
- AGO3 p.Gln781= Benign ★★ 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/ago3-p-pro324 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown