DDOST p.Gly184=
c.552G>A · rs1570414485 · VCV637969
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 7.13e-05%)
Conditions
1
intellectual disability
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 · C>A here scores Δ0.36 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -1, phastCons 1 |
| Overall | ||
| CADD | 15.03 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.13e-05%
Overall
7.13e-05%
1/1,402,254 alleles · very rare
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
- DDOST
- Protein
- p.Gly184=
- Coding
- c.552G>A
- MANE Select
- NM_005216
- dbSNP
- rs1570414485
- Type
- single nucleotide variant
- Location
- chr1:20654707 (GRCh38)
- Gene constraint
- LOEUF 0.747 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 89.27 · 6 PDB
- Residue 184
- a turn
Similar variants
- DDOST p.Gly184Arg Uncertain significance ★ ⚠ same residue
- DDOST p.Gln215His Pathogenic/Likely pathogenic ★★ ⚠ same type
- DDOST c.-18T>G Uncertain significance ★★ ⚠ same type
- DDOST p.Ala11Val Uncertain significance ★★ ⚠ same type
- DDOST p.Ala219Val Uncertain significance ★★ ⚠ same type
- DDOST p.Ala232Ser Uncertain significance ★★ ⚠ same type
- DDOST p.Ala415Thr Uncertain significance ★★ ⚠ same type
- DDOST p.Arg237His 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/ddost-p-gly184 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown