CDV3

Chr 3

CDV3 homolog

Also known as: H41

NCBI Gene: 55573ENSG00000091527UniProt: Q9UKY7OMIM: 618789

Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.52
Clinical Summary— CDV3
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.77) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
33 VUS of 43 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.768
Z-score 2.50
OE 0.11 (0.04–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.76Z-score
OE missense 0.79 (0.66–0.95)
85 obs / 107.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.11 (0.04–0.52)
0≤0.351.4
Missense OE?0.79 (0.66–0.95)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 1 / 9.2Missense obs/exp: 85 / 107.3Syn Z: 0.78

This gene — mechanism propensity

DN
0.3991th %ile
GOF
0.3986th %ile
LOF
0.66top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

43 submitted variants in ClinVar

ClinVar

Classification Summary

VUS33
33
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
33
0
0
33
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0330033

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

15 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap CDV3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

CDV3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients