Is CDC42 p.Pro182Gln (c.545C>A) pathogenic?

CDC42 p.Pro182Gln (c.545C>A) is classified Uncertain significance in CDC42 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-11-06). AlphaMissense: likely benign (0.0844); Absent from gnomAD v4.1.

How common is CDC42 p.Pro182Gln (c.545C>A) in the general population?

CDC42 p.Pro182Gln (c.545C>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CDC42 p.Pro182Gln (c.545C>A)?

AlphaMissense predicts likely benign (score 0.0844) — an in-silico prediction, not a clinical call.

CDC42 p.Pro182Gln

c.545C>A · rs1240303878 · VCV2812434

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0844 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0844	likely benign
REVEL	0.215	benign-leaning
SaProt	LLR -10.94	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 6	GERP 2.3, phastCons 1
Regional constraint	o/e 0.36	constrained · MANE · 4,828 bp · p 3e-11 · regional, not allelic
Overall
CADD	22.7	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CDC42
Protein: p.Pro182Gln
Coding: c.545C>A
MANE Select: NM_001791
dbSNP: rs1240303878
Type: single nucleotide variant
Location: chr1:22091486 (GRCh38)
Gene constraint: LOEUF 0.611 · pLI 0.87 (gnomAD)
Structure: AlphaFold pLDDT 93.30 · 48 PDB

Full CDC42 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CDC42 p.Pro182Leu Uncertain significance ★★ ⚠ same residue
CDC42 p.Pro182= Likely benign ★ 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-pro182gln (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown