DAB1 p.Pro308=
c.924G>A · rs12404008 · VCV754364
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0484%, amr)
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 0.23 | GERP -4.6, phastCons 0.99 |
| Overall | ||
| CADD | 15.18 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0484%
Admixed American · 29/59,906 alleles
Filtering AF
0.0345%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0299%
Overall
0.00465%
75/1,612,948 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0484% | 2,066 |
| South Asian | 0.0044% | 22,741 |
| African / African-American | 0.00401% | 24,948 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00339% | 29,500 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,213 |
| European (non-Finnish) | 0.00297% | 33,704 |
| Finnishnot grpmax-eligible | 0.00157% | 63,846 |
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.Pro308=
- Coding
- c.924G>A
- MANE Select
- NM_001365792
- dbSNP
- rs12404008
- Type
- single nucleotide variant
- Location
- chr1:57015403 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 59.20
Similar variants
- OMA1 p.Phe308= Benign ★★ same residue
- DAB1 p.Ala103Val Uncertain significance ★★ ⚠ same type
- DAB1 p.Ala75Thr Uncertain significance ★★ ⚠ same type
- DAB1 p.Arg41Gln Uncertain significance ★★ ⚠ same type
- DAB1 p.Pro334Leu Uncertain significance ★★ ⚠ same type
- DAB1 p.Pro376Ala Uncertain significance ★★ ⚠ same type
- DAB1 p.Pro391Ser Uncertain significance ★★ ⚠ same type
- DAB1 p.Pro516Leu 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/dab1-p-pro308 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown