Y159F (p.Tyr159Phe) variant of PSEN1 (Presenilin-1)
Y159F (p.Tyr159Phe) 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; Acne inversa, familial, 3; 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.
Y159F (p.Tyr159Phe) variant details
- p.Tyr159Phe
- rs778630379
- ClinGen CA390305138
- ClinVar RCV003062643
- UniProt VAR 081238
- Pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.85
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease. (PMID 23123781)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)