DAB1 p.Ser14=
c.42C>T · rs749634644 · VCV3030885
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00224%, 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 12 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 15.92 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00224%
East Asian · 1/44,614 alleles
Filtering AF
0.000543%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000429%
Overall
0.0011%
16/1,458,070 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00224% | 44,614 |
| Admixed American | 0.00168% | 59,392 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,346 |
| South Asian | 0.0011% | 90,520 |
| European (non-Finnish) | 0.00102% | 98,176 |
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.Ser14=
- Coding
- c.42C>T
- MANE Select
- NM_001365792
- dbSNP
- rs749634644
- Type
- single nucleotide variant
- Location
- chr1:57290989 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 59.20
- Residue 14
- the 'disordered' region
Disease context
DAB1-related disorder
Similar variants
- DAB1 p.Ala146= Uncertain significance same condition
- 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.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-ser14 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown