K687N (p.Lys687Asn) variant of APP (Amyloid-beta precursor protein)
K687N (p.Lys687Asn) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alzheimer disease type 1; Cerebral amyloid angiopathy, APP-related. The record also includes published literature and structural context.
K687N (p.Lys687Asn) variant details
- p.Lys687Asn
- rs199820754
- ClinGen CA409806222
- ClinVar RCV003397222
- Likely pathogenic
- Alzheimer disease type 1; Cerebral amyloid angiopathy, APP-related
- Missense
- ClinVar: Likely pathogenic (Alzheimer disease type 1; Cerebral amyloid angiopathy, APP-relat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)