AGO1 p.Ala8=
c.24A>T · VCV3366548
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.39 | donor gain · deltas |
|---|---|---|
| Pangolin | Δ0.20 | loss · gain 0.06 · SpliceAI calls gain · independent |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 22.7 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- AGO1
- Protein
- p.Ala8=
- Coding
- c.24A>T
- MANE Select
- NM_012199
- Type
- single nucleotide variant
- Location
- chr1:35883445 (GRCh38)
- Gene constraint
- LOEUF 0.164 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 91.45 · 8 PDB
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-ala8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown