DAB1 p.Ala146=
c.438G>A · rs887789978 · VCV2635858
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00669%, eas)
Conditions
1
DAB1-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 0.24 | GERP -2.7, phastCons 0.98 |
| Overall | ||
| CADD | 18.73 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00669%
East Asian · 3/44,838 alleles
Filtering AF
0.00177%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000892%
Overall
0.000992%
16/1,613,342 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00669% | 14,946 |
| African / African-American | 0.00267% | 37,496 |
| Admixed American | 0.00167% | 59,982 |
| European (non-Finnish) | 0.000848% | 117,951 |
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
- DAB1
- Protein
- p.Ala146=
- Coding
- c.438G>A
- MANE Select
- NM_001365792
- dbSNP
- rs887789978
- Type
- single nucleotide variant
- Location
- chr1:57072283 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 59.20
- Residue 146
- the pid domain
Disease context
DAB1-related disorder
Similar variants
- DAB1 p.Ala358= Likely benign same condition
- DAB1 p.His106Gln Likely benign ⚠ same condition
- DAB1 p.Ile339= Likely benign same condition
- DAB1 p.Met410Thr Likely benign same condition
- DAB1 p.Pro223= Likely benign same condition
- DAB1 p.Pro424= Likely benign same condition
- DAB1 p.Ser14= Likely benign same condition
- DAB1 p.Ser287Asn Benign ⚠ 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/dab1-p-ala146 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown