E280A (p.Glu280Ala) variant of PSEN1 (Presenilin-1)
E280A (p.Glu280Ala) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E280A (p.Glu280Ala) variant details
- p.Glu280Ala
- rs63750231
- ClinGen CA341491
- ClinVar RCV000019759
- ClinVar RCV000701892
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Presenilin-1-associated abnormalities in regional cerebral perfusion. (PMID 11402113)
- Cited in: Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor… (PMID 11568920)