DAO p.Ser93=
c.279G>A · rs7980427 · VCV1279421
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 30.7%, afr) — too common for a highly-penetrant pathogenic allele
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 -0.58 | GERP -4.7 |
| Overall | ||
| CADD | 5.787 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
30.7%
African / African-American · 22,967/74,794 alleles
Filtering AF
30.4%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 30.2%
Overall
9.11%
147,027/1,613,036 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 30.7% | 3 |
| Amishnot grpmax-eligible | 16.2% | 6 |
| Middle Eastern | 16.1% | 6 |
| South Asian | 15.6% | 6 |
| Ashkenazi Jewishnot grpmax-eligible | 10.9% | 9 |
| Remaining individualsnot grpmax-eligible | 9.48% | 11 |
| European (non-Finnish) | 7.82% | 13 |
| Admixed American | 6.36% | 16 |
| Finnishnot grpmax-eligible | 5.54% | 18 |
| East Asian | 0.0892% | 1,122 |
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.Ser93=
- Coding
- c.279G>A
- MANE Select
- NM_001917
- dbSNP
- rs7980427
- Type
- single nucleotide variant
- Location
- chr12:108887534 (GRCh38)
- Gene constraint
- LOEUF 1.222 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.26 · 22 PDB
- Residue 93
- a β-strand
Similar variants
- DAO p.Ile318Ser Uncertain significance ★★ ⚠ same type
- DAO c.195-99C>T Benign ★★ same type
- DAO c.387-258A>G Benign ★★ same type
- DAO c.453-182G>C Benign ★★ same type
- DAO c.507+98G>A Benign ★★ same type
- DAO c.508-55A>G Benign ★★ same type
- DAO c.696-25C>T Benign ★★ same type
- DAO c.912+166C>T Benign ★★ 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/dao-p-ser93 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown