E280G (p.Glu280Gly) variant of PSEN1 (Presenilin-1)
E280G (p.Glu280Gly) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E280G (p.Glu280Gly) variant details
- p.Glu280Gly
- rs63750231
- ClinGen CA127837
- ClinVar RCV000019760
- ClinVar RCV000019761
- Pathogenic
- Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.99
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.02
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer di)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Population evidence available
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. (PMID 12370477)