DGUOK p.Pro63=
c.189A>C · rs772552133 · VCV735409
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00667%, amr)
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 1.1 | GERP -3.4, phastCons 0.99 |
| Overall | ||
| CADD | 8.497 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00667%
Admixed American · 4/60,008 alleles
Filtering AF
0.00226%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00135%
Overall
0.000805%
13/1,614,024 alleles · very rare
exomes 12/1,461,796 · genomes 1/152,228 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00667% | 15,002 |
| European (non-Finnish) | 0.000763% | 131,109 |
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
- DGUOK
- Protein
- p.Pro63=
- Coding
- c.189A>C
- MANE Select
- NM_080916
- dbSNP
- rs772552133
- Type
- single nucleotide variant
- Location
- chr2:73938956 (GRCh38)
- Gene constraint
- LOEUF 1.115 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 87.27 · 1 PDB
Similar variants
- DGUOK c.443+1G>A Pathogenic ★★ same type
- DGUOK c.444-62C>A Pathogenic/Likely pathogenic ★★ same type
- DGUOK p.Arg118Cys Pathogenic/Likely pathogenic ★★ same type
- DGUOK p.Arg118His Pathogenic/Likely pathogenic ★★ same type
- DGUOK p.Arg142Lys Pathogenic/Likely pathogenic ★★ same type
- DGUOK p.Asp255Tyr Pathogenic/Likely pathogenic ★★ ⚠ same type
- DGUOK p.Gln197= Pathogenic/Likely pathogenic ★★ same type
- DGUOK p.Gln79Ter Pathogenic ★★ 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/dguok-p-pro63 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown