DAB1 p.Leu157=
c.471C>T · rs755412805 · VCV760870
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0307%, afr)
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 6.7 | GERP 0.41, phastCons 1 |
| Overall | ||
| CADD | 8.539 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0307%
African / African-American · 23/74,898 alleles
Filtering AF
0.021%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0178%
Overall
0.0018%
29/1,613,586 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0307% | 3,256 |
| Admixed American | 0.00334% | 29,981 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,233 |
| European (non-Finnish) | 0.00017% | 589,939 |
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.Leu157=
- Coding
- c.471C>T
- MANE Select
- NM_001365792
- dbSNP
- rs755412805
- Type
- single nucleotide variant
- Location
- chr1:57071609 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 59.20
- Residue 157
- the pid domain
Similar variants
- 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
- DAB1 p.Val240Leu 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-leu157 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown