WDR17
Chr 4WD repeat domain 17
This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.85LOEUF
pLI 0.000
Z-score 2.62
OE 0.67 (0.53–0.85)
Typical tolerance to LoF variation
Missense Constraint?
0.49Z-score
OE missense 0.95 (0.89–1.01)
648 obs / 683.8 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.67 (0.53–0.85)
0≤0.351.4
Missense OE?0.95 (0.89–1.01)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 50 / 74.4Missense obs/exp: 648 / 683.8Syn Z: -0.02
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WDR17 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools