DGUOK p.Arg40=
c.120G>A · rs2466942349 · VCV3061717
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,610,062)
Conditions
1
DGUOK-related disorder
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 3.3 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 13.57 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,610,062). 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
- DGUOK
- Protein
- p.Arg40=
- Coding
- c.120G>A
- MANE Select
- NM_080916
- dbSNP
- rs2466942349
- Type
- single nucleotide variant
- Location
- chr2:73927030 (GRCh38)
- Gene constraint
- LOEUF 1.115 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 87.27 · 1 PDB
- Residue 40
- a β-strand
Disease context
DGUOK-related disorder
Similar variants
- DGUOK c.444-62C>A Pathogenic/Likely pathogenic ★★ same condition
- DGUOK p.Gln197= Pathogenic/Likely pathogenic ★★ same condition
- DGUOK p.Leu266Arg Pathogenic/Likely pathogenic ★★ same condition
- DGUOK p.Ser52Phe Pathogenic/Likely pathogenic ★★ same condition
- DGUOK c.444-1G>C Likely pathogenic ★ same condition
- DGUOK c.591+1G>T Likely pathogenic ★ same condition
- DGUOK p.Asn154Lys Conflicting classifications of pathogenicity ★ ⚠ same condition
- DGUOK p.Thr185Ile Uncertain significance ★ ⚠ same condition
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/dguok-p-arg40 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown