L250F (p.Leu250Phe) variant of PSEN1 (Presenilin-1)
L250F (p.Leu250Phe) 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; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L250F (p.Leu250Phe) variant details
- p.Leu250Phe
- rs1898781850
- ClinGen CA390299886
- ClinVar RCV002037964
- TOPMed rs1898781850
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)