DAO p.Ala8=
c.24A>T · rs181080261 · VCV3030052
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0125%, nfe)
Conditions
1
DAO-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 -20 | GERP -4.6 |
| Overall | ||
| CADD | 0.007 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0125%
European (non-Finnish) · 148/1,180,028 alleles
Filtering AF
0.0109%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0102%
Overall
0.00935%
151/1,614,132 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0125% | 7,973 |
| Admixed American | 0.00167% | 60,002 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,508 |
| African / African-American | 0.00133% | 75,034 |
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
- DAO
- Protein
- p.Ala8=
- Coding
- c.24A>T
- MANE Select
- NM_001917
- dbSNP
- rs181080261
- Type
- single nucleotide variant
- Location
- chr12:108885030 (GRCh38)
- Gene constraint
- LOEUF 1.222 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.26 · 22 PDB
- Residue 8
- the 'required for protein stability' region; a binding site
Disease context
DAO-related disorder
Similar variants
- DAO p.Arg290Gln Uncertain significance ★ ⚠ same condition
- DAO p.Arg297His Uncertain significance ★ ⚠ same condition
- DAO p.Arg2Ser Uncertain significance ★ ⚠ same condition
- DAO p.Arg38His Uncertain significance ★ ⚠ same condition
- DAO p.Gly131Cys Uncertain significance ★ ⚠ same condition
- DAO p.Pro103= Uncertain significance ★ same condition
- DAO p.Thr235Ile Uncertain significance ★ ⚠ same condition
- DAO p.Arg286Cys 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/dao-p-ala8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown