D694N (p.Asp694Asn) variant of APP (Amyloid-beta precursor protein)
D694N (p.Asp694Asn) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cerebral amyloid angiopathy, APP-related; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D694N (p.Asp694Asn) variant details
- p.Asp694Asn
- rs63749810
- ClinGen CA127804
- ClinVar RCV000019729
- ClinVar RCV000084564
- Pathogenic
- not provided; Cerebral amyloid angiopathy, APP-related; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.71
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Cerebral amyloid angiopathy, APP-related; Alzheime)
- EBI: Pathogenic (in CAA-APP)
- UniProt: Pathogenic (in CAA-APP)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. (PMID 11409420)
- Cited in: Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. (PMID 12654973)