TUSC3 p.Val266=
c.798G>A · rs1808064855 · VCV1761500
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00134%, afr)
Conditions
1
Inborn genetic diseases
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 8.1 | GERP 2, phastCons 1 |
| Overall | ||
| CADD | 20.3 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00134%
African / African-American · 1/74,746 alleles
Overall
0.000124%
2/1,610,162 alleles · very rare
exomes 1/1,458,244 · genomes 1/151,918 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00134% | 74,746 |
| European (non-Finnish) | 8.5e-05% | 1,177,151 |
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
- TUSC3
- Protein
- p.Val266=
- Coding
- c.798G>A
- MANE Select
- NM_006765
- dbSNP
- rs1808064855
- Type
- single nucleotide variant
- Location
- chr8:15673836 (GRCh38)
- Gene constraint
- LOEUF 1.31 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.78 · 4 PDB
Similar variants
- TUSC3 p.Gln177Ter Pathogenic ★★ same condition
- TUSC3 p.Arg159Lys Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Arg15Gln Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Arg15Pro Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Arg312Trp Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Leu217Met Uncertain significance ★★ ⚠ same condition
- TUSC3 p.Ile65Val Benign/Likely benign ★★ same condition
- TUSC3 p.Leu29= Benign/Likely benign ★★ same condition
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/tusc3-p-val266 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown