RAC2 p.Ser151=
c.453G>A · rs369270392 · VCV3047060
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00134%, afr)
Conditions
1
RAC2-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 -11 | GERP -3.8 |
| Overall | ||
| CADD | 4.715 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00134%
African / African-American · 1/74,580 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000186%
3/1,612,426 alleles · very rare
exomes 2/1,460,756 · genomes 1/151,670 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00134% | 74,580 |
| European (non-Finnish) | 0.00017% | 589,720 |
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
- RAC2
- Protein
- p.Ser151=
- Coding
- c.453G>A
- MANE Select
- NM_002872
- dbSNP
- rs369270392
- Type
- single nucleotide variant
- Location
- chr22:37226799 (GRCh38)
- Gene constraint
- LOEUF 0.197 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 93.56 · 4 PDB
- Residue 151
- a UniProt-annotated variant site (in imd73c; strong decrease in protein expression)
Disease context
RAC2-related disorder
Similar variants
- RAC2 p.Ser151Leu Uncertain significance ★ ⚠ same residue
- RAC2 p.Ser151Trp Uncertain significance ★ ⚠ same residue
- RAC2 c.226-4C>A Likely benign same condition
- RAC2 p.Glu62Lys Pathogenic/Likely pathogenic ★★ same type
- RAC2 p.Ala95Thr Uncertain significance ★★ ⚠ same type
- RAC2 p.Arg120Trp Uncertain significance ★★ ⚠ same type
- RAC2 p.Arg174Trp Uncertain significance ★★ ⚠ same type
- RAC2 p.Arg183Trp 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/rac2-p-ser151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown