CDC42BPB p.Ala767=
c.2301G>A · VCV3777954
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00822%, nfe)
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 -14 | GERP -3.9 |
| Overall | ||
| CADD | 0.034 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00822%
European (non-Finnish) · 97/1,179,992 alleles
Filtering AF
0.00689%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00633%
Overall
0.00626%
101/1,613,904 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00822% | 12,165 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,241 |
| East Asian | 0.00223% | 44,902 |
| 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
- CDC42BPB
- Protein
- p.Ala767=
- Coding
- c.2301G>A
- MANE Select
- NM_006035
- Type
- single nucleotide variant
- Location
- chr14:102968298 (GRCh38)
- Gene constraint
- LOEUF 0.235 · pLI 1.00 · ClinGen HI 2/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.28 · 6 PDB
- Residue 767
- a UniProt-annotated variant site (in chocns)
Similar variants
- CDC42BPB c.2726+1G>A Pathogenic/Likely pathogenic ★★ same type
- CDC42BPB p.Ala177Val Likely pathogenic ★★ same type
- CDC42BPB p.Arg122Ter Pathogenic/Likely pathogenic ★★ same type
- CDC42BPB p.Arg867Cys Pathogenic/Likely pathogenic ★★ ⚠ same type
- CDC42BPB p.Arg876Pro Likely pathogenic ★★ ⚠ same type
- CDC42BPB p.Asp175Tyr Likely pathogenic ★★ same type
- CDC42BPB p.Ser1530Ter Likely pathogenic ★★ same type
- CDC42BPB p.Arg509Ter 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/cdc42bpb-p-ala767 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown