CDC42BPG p.Glu170=
c.510G>A · rs115427619 · VCV734914
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.643%, afr)
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 0.82 | GERP -2.1, phastCons 1 |
| Overall | ||
| CADD | 8.641 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.643%
African / African-American · 483/75,066 alleles
Filtering AF
0.596%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.577%
Overall
0.0354%
571/1,613,238 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.643% | 155 |
| Remaining individualsnot grpmax-eligible | 0.0544% | 1,838 |
| Admixed American | 0.0366% | 2,729 |
| European (non-Finnish) | 0.00263% | 38,064 |
| South Asian | 0.0011% | 91,090 |
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
- CDC42BPG
- Protein
- p.Glu170=
- Coding
- c.510G>A
- MANE Select
- NM_017525
- dbSNP
- rs115427619
- Type
- single nucleotide variant
- Location
- chr11:64840191 (GRCh38)
- Gene constraint
- LOEUF 1.039 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 72.90
- Residue 170
- the protein kinase domain
Similar variants
- CDC42BPG p.Glu170Asp Uncertain significance ★ ⚠ same residue
- CDC42BPG p.Ile77= Benign ★★ same type
- CDC42BPG p.Lys467Asn Benign ★★ same type
- CDC42BPG p.Pro1257= Benign ★★ same type
- CDC42BPG p.Ala1013Val Uncertain significance ★ ⚠ same type
- CDC42BPG p.Ala1036Val Uncertain significance ★ ⚠ same type
- CDC42BPG p.Ala1071Val Uncertain significance ★ ⚠ same type
- CDC42BPG p.Ala1098Thr 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/cdc42bpg-p-glu170 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown