E280K (p.Glu280Lys) variant of PSEN1 (Presenilin-1)
E280K (p.Glu280Lys) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease 3; Frontotemporal dementia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E280K (p.Glu280Lys) variant details
- p.Glu280Lys
- rs2140105309
- ClinGen CA390302176
- ClinVar RCV001949489
- Ensembl rs2140105309
- Pathogenic
- Alzheimer disease 3; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Alzheimer disease 3; Frontotemporal dementia; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- 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)