CHUK p.Val376=
c.1128T>C · rs2134229242 · VCV1357266
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,577,032)
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 -0.082 | GERP -3.7, phastCons 0.069 |
| Overall | ||
| CADD | 4.038 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,577,032). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CHUK
- Protein
- p.Val376=
- Coding
- c.1128T>C
- MANE Select
- NM_001278
- dbSNP
- rs2134229242
- Type
- single nucleotide variant
- Location
- chr10:100209595 (GRCh38)
- Gene constraint
- LOEUF 0.61 · pLI 0.39 (gnomAD)
- Structure
- AlphaFold pLDDT 84.41 · 5 PDB
Similar variants
- 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
- CHUK p.Lys512Arg 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-val376 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown