S169L (p.Ser169Leu) variant of PSEN1 (Presenilin-1)
S169L (p.Ser169Leu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
S169L (p.Ser169Leu) variant details
- p.Ser169Leu
- rs63751210
- ClinGen CA225045
- ClinVar RCV000084325
- ClinVar RCV002513897
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. (PMID 9831473)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)