DAB2IP p.Arg199=
c.595C>A · rs114266755 · VCV713727
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.54%, 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 3.3 | GERP 0.48, phastCons 1 |
| Overall | ||
| CADD | 9.515 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.54%
African / African-American · 1,903/75,022 alleles
Filtering AF
2.44%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.4%
Overall
0.203%
3,279/1,612,870 alleles · low-frequency
exomes 1,975/1,460,584 · genomes 1,304/152,286 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.54% | 39 |
| Finnishnot grpmax-eligible | 1.03% | 97 |
| East Asian | 0.421% | 237 |
| Remaining individualsnot grpmax-eligible | 0.275% | 363 |
| Middle Eastern | 0.182% | 551 |
| Admixed American | 0.16% | 624 |
| South Asian | 0.103% | 972 |
| European (non-Finnish) | 0.0134% | 7,467 |
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
- DAB2IP
- Protein
- p.Arg199=
- Coding
- c.595C>A
- MANE Select
- NM_001395010
- dbSNP
- rs114266755
- Type
- single nucleotide variant
- Location
- chr9:121758976 (GRCh38)
- Gene constraint
- LOEUF 0.407 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 65.74
- Residue 199
- the ph domain; the c2 domain
Similar variants
- DAB2IP p.Ala816Thr Benign ★★ same type
- DAB2IP p.Arg966His Benign ★★ same type
- DAB2IP p.Asp97= Benign/Likely benign ★★ same type
- DAB2IP p.Lys284= Benign ★★ same type
- DAB2IP p.Pro126= Likely benign ★★ same type
- DAB2IP p.Ser460Leu Benign ★★ ⚠ same type
- DAB2IP p.Ser68= Likely benign ★★ same type
- DAB2IP p.Tyr334= 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/dab2ip-p-arg199 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown