WDFY1
Chr 2WD repeat and FYVE domain containing 1
Also known as: FENS-1, FENS1, WDF1, ZFYVE17
WDFY1 encodes a phosphatidylinositol 3-phosphate binding protein that localizes to early endosomes and positively regulates TLR3- and TLR4-mediated signaling pathways, promoting inflammatory cytokine production. The gene is highly constrained against loss-of-function variants (LOEUF 0.752), but specific disease associations have not been established in the provided data. Additional clinical and genetic evidence would be needed to determine the phenotypic consequences of WDFY1 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
121 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 62 | 2 | 0 | 64 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 62 | 34 | 0 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
WDFY1 · 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