TAOK2 p.Arg92=
c.276G>A · rs61737959 · VCV714698
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.84%, 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 7.4 | GERP 0.77, phastCons 1 |
| Overall | ||
| CADD | 12.68 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.84%
African / African-American · 1,377/75,020 alleles
Filtering AF
1.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.72%
Overall
0.122%
1,972/1,614,122 alleles · low-frequency
exomes 1,188/1,461,890 · genomes 784/152,232 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.84% | 54 |
| Middle Eastern | 0.396% | 253 |
| Ashkenazi Jewishnot grpmax-eligible | 0.277% | 361 |
| Admixed American | 0.21% | 476 |
| Remaining individualsnot grpmax-eligible | 0.187% | 534 |
| European (non-Finnish) | 0.0201% | 4,979 |
| South Asian | 0.00878% | 11,384 |
| East Asian | 0.00223% | 44,872 |
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.Arg92=
- Coding
- c.276G>A
- MANE Select
- NM_016151
- dbSNP
- rs61737959
- Type
- single nucleotide variant
- Location
- chr16:29978323 (GRCh38)
- Gene constraint
- LOEUF 0.459 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 67.17
- Residue 92
- the protein kinase domain
Similar variants
- TAOK2 p.Arg92Gln Uncertain significance ★ ⚠ same residue
- TAOK2 p.Arg92Trp 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
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-arg92 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown