ASTN2 p.Glu266=
c.798G>A · rs147282869 · VCV787707
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.611%, 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 -3.1 | GERP -0.098 |
| Overall | ||
| CADD | 4.816 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.611%
African / African-American · 458/75,002 alleles
Filtering AF
0.564%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.546%
Overall
0.033%
531/1,609,382 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.611% | 164 |
| Admixed American | 0.0617% | 1,620 |
| Remaining individualsnot grpmax-eligible | 0.0434% | 2,305 |
| Middle Eastern | 0.0166% | 6,042 |
| South Asian | 0.0022% | 45,479 |
| European (non-Finnish) | 0.00051% | 196,001 |
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
- ASTN2
- Protein
- p.Glu266=
- Coding
- c.798G>A
- MANE Select
- NM_001365068
- dbSNP
- rs147282869
- Type
- single nucleotide variant
- Location
- chr9:117214575 (GRCh38)
- Gene constraint
- LOEUF 0.473 · pLI 0.99 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 64.93 · 3 PDB
Similar variants
- TRIM32 p.Thr266= Likely benign ★ same residue
- TRIM32 p.Arg500Ter Pathogenic/Likely pathogenic ★★ same type
- TRIM32 p.Asp487Asn Pathogenic ★★ same type
- TRIM32 p.Lys401Ter Pathogenic ★★ same type
- TRIM32 p.Tyr226Ter Pathogenic/Likely pathogenic ★★ same type
- TRIM32 p.Tyr528Ter Likely pathogenic ★★ same type
- ASTN2 p.Val880Gly Uncertain significance ★★ ⚠ same type
- TRIM32 c.*152T>G 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/astn2-p-glu266 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown