G209E (p.Gly209Glu) variant of PSEN1 (Presenilin-1)
G209E (p.Gly209Glu) 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; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G209E (p.Gly209Glu) variant details
- p.Gly209Glu
- rs63750053
- ClinGen CA390299412
- ClinVar RCV000821428
- UniProt VAR 075267
- Pathogenic
- Alzheimer disease 3; Frontotemporal dementia; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Alzheimer disease 3; Frontotemporal dementia; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)