TAOK2 p.Pro224=
c.672G>A · VCV4748960
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.099%, 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 -2.5 | GERP -3.8 |
| Overall | ||
| CADD | 5.643 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.099%
Middle Eastern · 6/6,062 alleles
Filtering AF
0.043%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0294%
Overall
0.00155%
25/1,614,028 alleles · ultra-rare
exomes 25/1,461,878 · genomes 0/152,150 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.099% | 1,010 |
| South Asian | 0.00769% | 13,009 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,835 |
| Finnishnot grpmax-eligible | 0.00469% | 21,333 |
| Admixed American | 0.00167% | 60,004 |
| European (non-Finnish) | 0.000424% | 235,999 |
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
- TAOK2
- Protein
- p.Pro224=
- Coding
- c.672G>A
- MANE Select
- NM_016151
- Type
- single nucleotide variant
- Location
- chr16:29981677 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 67.17
- Residue 224
- the protein kinase domain
Similar variants
- TAOK2 p.Pro224Leu Uncertain significance ★ ⚠ same residue
- TAOK2 p.Ala1057Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala1062Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala1148Thr Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala444Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala733Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala747Val Uncertain significance ★★ ⚠ same type
- TAOK2 p.Ala761Val 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/taok2-p-pro224 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown