AGO1 p.Pro61=
c.183G>C · rs74665168 · VCV720251
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.88%, 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 -3.9 | GERP -4.7 |
| Overall | ||
| CADD | 0.605 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.88%
African / African-American · 2,162/75,024 alleles
Filtering AF
2.78%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.74%
Overall
0.157%
2,537/1,614,126 alleles · low-frequency
exomes 1,325/1,461,858 · genomes 1,212/152,268 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.88% | 35 |
| Remaining individualsnot grpmax-eligible | 0.248% | 403 |
| Admixed American | 0.148% | 674 |
| South Asian | 0.101% | 990 |
| East Asian | 0.0512% | 1,951 |
| Middle Eastern | 0.0495% | 2,021 |
| European (non-Finnish) | 0.0011% | 90,770 |
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
- AGO1
- Protein
- p.Pro61=
- Coding
- c.183G>C
- MANE Select
- NM_012199
- dbSNP
- rs74665168
- Type
- single nucleotide variant
- Location
- chr1:35888584 (GRCh38)
- Gene constraint
- LOEUF 0.164 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.45 · 8 PDB
- Residue 61
- a β-strand
Similar variants
- AGO1 p.Asp356Asn Likely pathogenic ★★ same type
- AGO1 p.Gly199Ser Pathogenic/Likely pathogenic ★★ same type
- AGO1 p.Pro189Leu Likely pathogenic ★★ same type
- AGO1 p.Ala103Val Uncertain significance ★★ ⚠ same type
- AGO1 p.Ala413Val Uncertain significance ★★ ⚠ same type
- AGO1 p.Ala479Val Uncertain significance ★★ ⚠ same type
- AGO1 p.Arg26Gln Uncertain significance ★★ ⚠ same type
- AGO1 p.Arg284His 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/ago1-p-pro61 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown