TACO1 p.Ile150=
c.450C>T · VCV3771679
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0166%, mid)
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 -0.46 | GERP -1.7, phastCons 0.16 |
| Overall | ||
| CADD | 4.138 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0166%
Middle Eastern · 1/6,042 alleles
Filtering AF
7.9e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 5.4e-05%
Overall
0.000434%
7/1,614,002 alleles · ultra-rare
exomes 6/1,461,776 · genomes 1/152,226 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0166% | 6,042 |
| East Asian | 0.00223% | 44,880 |
| Admixed American | 0.00167% | 60,012 |
| European (non-Finnish) | 0.000339% | 294,985 |
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.Ile150=
- Coding
- c.450C>T
- MANE Select
- NM_016360
- Type
- single nucleotide variant
- Location
- chr17:63606375 (GRCh38)
- Gene constraint
- LOEUF 0.848 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.91 · 8 PDB
Similar variants
- TACO1 p.Ile150Val Uncertain significance ★★ ⚠ same residue
- TACO1 p.Ile150Met Uncertain significance ★ ⚠ same residue
- 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
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-ile150 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown