WDR55

Chr 5

WD repeat domain 55

NCBI Gene: 54853ENSG00000120314UniProt: Q9H6Y2

Predicted to be involved in rRNA processing. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
12
Pathogenic / LP
117
ClinVar variants
1
Pubs (1 yr)
1.0
Missense Z
1.67
LOEUF
Clinical Summary— WDR55
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 99 VUS of 117 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.67LOEUF
pLI 0.000
Z-score -0.55
OE 1.15 (0.80–1.67)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.97Z-score
OE missense 0.82 (0.73–0.92)
186 obs / 227.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.15 (0.80–1.67)
0≤0.351.4
Missense OE0.82 (0.73–0.92)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 19 / 16.6Missense obs/exp: 186 / 227.2Syn Z: 0.97

ClinVar Variant Classifications

117 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
VUS99
Likely Benign6
12
Pathogenic
99
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
0
0
0
VUS
0
94
5
0
99
Likely Benign
0
4
1
1
6
Benign
0
0
0
0
0
Total098181117

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

View in ClinVar →

WDR55 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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