DAB2 p.Ser227=
c.681T>C · rs74808556 · VCV789737
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.36%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.8 | GERP -0.47, phastCons 1 |
| Overall | ||
| CADD | 9.679 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.36%
African / African-American · 1,764/74,856 alleles
Filtering AF
2.26%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.23%
Overall
0.163%
2,621/1,609,118 alleles · low-frequency
exomes 1,533/1,456,800 · genomes 1,088/152,318 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.36% | 42 |
| Admixed American | 0.476% | 210 |
| Middle Eastern | 0.281% | 355 |
| Remaining individualsnot grpmax-eligible | 0.246% | 407 |
| European (non-Finnish) | 0.0338% | 2,957 |
| South Asian | 0.00442% | 22,609 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00339% | 29,516 |
| East Asian | 0.00224% | 44,716 |
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
- DAB2
- Protein
- p.Ser227=
- Coding
- c.681T>C
- MANE Select
- NM_001343
- dbSNP
- rs74808556
- Type
- single nucleotide variant
- Location
- chr5:39388311 (GRCh38)
- Gene constraint
- LOEUF 0.479 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 54.33 · 3 PDB
Similar variants
- DAB2 p.Leu206Pro Uncertain significance ★★ ⚠ same type
- DAB2 c.571-9T>A Benign ★★ same type
- DAB2 p.Arg296= Benign ★★ same type
- DAB2 p.Arg296Cys Benign ★★ same type
- DAB2 p.Asn226= Benign ★★ same type
- DAB2 p.Gln523His Likely benign ★★ same type
- DAB2 p.Pro529= Likely benign ★★ same type
- DAB2 p.Thr505Ile 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/dab2-p-ser227 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown