SNX30
Chr 9sorting nexin family member 30
Also known as: ATG24A
The SNX30 protein binds phosphatidylinositol and regulates autophagosome assembly, protein transport, cytoskeletal reorganization, endocytosis, and mitotic progression including cytokinesis and cleavage furrow formation. With a low LOEUF score of 0.454 indicating intolerance to loss-of-function variants, SNX30 mutations would likely cause autosomal dominant disease, though no specific clinical phenotype has been established yet. The protein's essential roles in cellular trafficking and cell division suggest mutations could lead to neurodevelopmental disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
111 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 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 59 | 3 | 0 | 62 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 60 | 35 | 1 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SNX30 · 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 →External Resources
Links to major genomics databases and tools