Cerebral amyloid angiopathy, APP-related: genes and variants
Cerebral amyloid angiopathy, APP-related is linked to 1 analyzed protein (APP). 7 DNA variants are known to cause it; 9 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Cerebral amyloid angiopathy, APP-related
APP: Amyloid-beta precursor protein
Its processing produces multiple fragments involved in neuronal biology, including amyloid-beta peptides generated by beta- and gamma-secretase cleavage. Increased amyloidogenic processing, pathogenic variants, or increased gene dosage can cause autosomal dominant Alzheimer disease or cerebral amyloid angiopathy.
7 disease-causing and 9 uncertain variants in APP are linked to Cerebral amyloid angiopathy, APP-related.
Where Cerebral amyloid angiopathy, APP-related variants cluster
- APP Transmembrane (positions 702–722): 3 of 7 disease-causing changes, 15.7× more than its size predicts.
Known disease-causing variants in Cerebral amyloid angiopathy, APP-related
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APP A713T | 713 | Transmembrane | Disease-causing (★★) |
| APP V717I | 717 | Transmembrane | Disease-causing (★★) |
| APP D694N | 694 | Extracellular | Disease-causing (★★) |
| APP E674Q | 674 | Extracellular | Disease-causing (★★) |
| APP E693Q | 693 | Extracellular | Disease-causing (★★) |
| APP L705V | 705 | Transmembrane | Disease-causing (★) |
| APP K687N | 687 | Extracellular | Disease-causing (★) |
Same protein, different disease
- Alzheimer disease is also caused by APP variants; they fall in the same places as the Cerebral amyloid angiopathy, APP-related variants (22 disease-causing).
- ABeta amyloidosis, Arctic type is also caused by APP variants; they fall partly in the same places as the Cerebral amyloid angiopathy, APP-related variants (3 disease-causing).
Diseases related to Cerebral amyloid angiopathy, APP-related
- Alzheimer disease, also linked to APP
- Dementia, also linked to APP
Frequently asked questions
Which genes are linked to Cerebral amyloid angiopathy, APP-related?
In CATVariant, Cerebral amyloid angiopathy, APP-related is linked to 1 analyzed protein: APP (Amyloid-beta precursor protein).
How many genetic variants are linked to Cerebral amyloid angiopathy, APP-related?
19 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 9 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cerebral amyloid angiopathy, APP-related look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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