CHUK p.Asn28=
c.84C>T · rs1267084270 · VCV2845658
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00671%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.95 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.22 | GERP -1.5, phastCons 0.86 |
| Overall | ||
| CADD | 11.78 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00671%
Admixed American · 4/59,604 alleles
Filtering AF
0.00227%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00136%
Overall
0.000345%
5/1,450,214 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00671% | 14,901 |
| African / African-American | 0.00134% | 74,904 |
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
- CHUK
- Protein
- p.Asn28=
- Coding
- c.84C>T
- MANE Select
- NM_001278
- dbSNP
- rs1267084270
- Type
- single nucleotide variant
- Location
- chr10:100229449 (GRCh38)
- Gene constraint
- LOEUF 0.61 · pLI 0.39 (gnomAD)
- Structure
- AlphaFold pLDDT 84.41 · 5 PDB
- Residue 28
- the protein kinase domain; a binding site
Similar variants
- CHUK p.Asn28His Uncertain significance ★ ⚠ same residue
- CHUK p.Arg365Gln Uncertain significance ★★ ⚠ same type
- CHUK p.Arg424Cys Uncertain significance ★★ ⚠ same type
- CHUK p.Arg563Cys Uncertain significance ★★ ⚠ same type
- CHUK p.Arg563His Uncertain significance ★★ ⚠ same type
- CHUK p.Gln226Pro Uncertain significance ★★ ⚠ same type
- CHUK p.Gly346Arg Uncertain significance ★★ ⚠ same type
- CHUK p.His520Arg 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/chuk-p-asn28 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown