RAC3 p.Arg102=
c.306G>A · rs141719529 · VCV3051136
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.442%, afr)
Conditions
1
RAC3-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 1.1 | GERP -3.9, phastCons 1 |
| Overall | ||
| CADD | 8.696 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.442%
African / African-American · 331/74,922 alleles
Filtering AF
0.403%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.387%
Overall
0.0235%
378/1,608,290 alleles · rare
exomes 184/1,456,046 · genomes 194/152,244 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.442% | 226 |
| Remaining individualsnot grpmax-eligible | 0.0402% | 2,490 |
| Admixed American | 0.0235% | 4,251 |
| South Asian | 0.0011% | 90,652 |
| European (non-Finnish) | 0.000594% | 168,212 |
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
- RAC3
- Protein
- p.Arg102=
- Coding
- c.306G>A
- MANE Select
- NM_005052
- dbSNP
- rs141719529
- Type
- single nucleotide variant
- Location
- chr17:82033457 (GRCh38)
- Gene constraint
- LOEUF 0.726 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 93.92 · 6 PDB
- Residue 102
- an α-helix
Disease context
RAC3-related disorder
Similar variants
- RAC3 p.Lys116Asn Pathogenic/Likely pathogenic ★★ same condition
- RAC3 p.Tyr32His Uncertain significance ★ ⚠ same condition
- RAC3 p.Asp65Asn Likely pathogenic same condition
- RAC3 c.*3C>G Likely benign same condition
- RAC3 p.Ala159= Benign same condition
- RAC3 p.Arg174= Likely benign same condition
- RAC3 p.Leu79= Likely benign same condition
- RAC3 p.Asp63Asn Pathogenic/Likely pathogenic ★★ 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/rac3-p-arg102 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown