SNAP91
Chr 6synaptosome associated protein 91
Also known as: AP180, CALM
The protein functions as a clathrin adaptor that links clathrin to receptors in coated vesicles and regulates clathrin-dependent endocytosis at synapses. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating that heterozygous variants are unlikely to be pathogenic in most cases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNAP91 · 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