TACO1 p.Ser82=
c.246C>T · rs2033819461 · VCV1953164
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 8.47e-05%, nfe)
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 -0.12 | GERP 0.14, phastCons 0.11 |
| Overall | ||
| CADD | 11.39 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.47e-05%
European (non-Finnish) · 1/1,179,994 alleles
Overall
6.2e-05%
1/1,613,134 alleles · very rare
exomes 1/1,460,754 · genomes 0/152,380 · joint denominator
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
- TACO1
- Protein
- p.Ser82=
- Coding
- c.246C>T
- MANE Select
- NM_016360
- dbSNP
- rs2033819461
- Type
- single nucleotide variant
- Location
- chr17:63601329 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.91 · 8 PDB
Similar variants
- TACO1 c.280+1G>C Pathogenic/Likely pathogenic ★★ same type
- TACO1 p.Arg141Ter Pathogenic ★★ same type
- TACO1 p.Arg113His Uncertain significance ★★ ⚠ same type
- TACO1 p.Arg141Gln Uncertain significance ★★ ⚠ same type
- TACO1 p.Arg205Cys Uncertain significance ★★ ⚠ same type
- TACO1 p.Arg89Cys Uncertain significance ★★ ⚠ same type
- TACO1 p.Asn171His Uncertain significance ★★ ⚠ same type
- TACO1 p.Glu151Gly 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/taco1-p-ser82 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown