CDC42 p.Pro182=
c.546G>A · rs16826564 · VCV1363490
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00989%, sas)
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 6.6 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 14.35 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00989%
South Asian · 9/91,030 alleles
Filtering AF
0.00623%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00579%
Overall
0.00657%
106/1,613,224 alleles · very rare
exomes 103/1,461,142 · genomes 3/152,082 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00989% | 10,114 |
| Remaining individualsnot grpmax-eligible | 0.00801% | 12,490 |
| European (non-Finnish) | 0.00755% | 13,252 |
| African / African-American | 0.00267% | 37,422 |
| Finnishnot grpmax-eligible | 0.00156% | 64,006 |
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
- CDC42
- Protein
- p.Pro182=
- Coding
- c.546G>A
- MANE Select
- NM_001791
- dbSNP
- rs16826564
- Type
- single nucleotide variant
- Location
- chr1:22091487 (GRCh38)
- Gene constraint
- LOEUF 0.611 · pLI 0.87 (gnomAD)
- Structure
- AlphaFold pLDDT 93.30 · 48 PDB
Similar variants
- CDC42 p.Pro182Leu Uncertain significance ★★ ⚠ same residue
- CDC42 p.Pro182Gln Uncertain significance ★ ⚠ same residue
- CDC42 p.Ala159Val Pathogenic ★★ same type
- CDC42 p.Arg186Cys Pathogenic ★★ ⚠ same type
- CDC42 p.Arg66Gly Pathogenic ★★ same type
- CDC42 p.Arg68Gln Pathogenic ★★ same type
- CDC42 p.Cys81Phe Likely pathogenic ★★ same type
- CDC42 p.Glu171Lys 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/cdc42-p-pro182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown