WSCD1
Chr 17WSC domain sialate O sulfotransferase 1
WSCD1 encodes a sialate:O-sulfotransferase that catalyzes 8-O-sulfation of sialic acid residues on glycolipids including GM1 gangliosides, functioning at the Golgi membrane. The gene is highly constrained against loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental disorders. However, no specific human disease phenotypes have been definitively associated with WSCD1 mutations to date.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WSCD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools