L282P (p.Leu282Pro) variant of PSEN1 (Presenilin-1)
L282P (p.Leu282Pro) 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 not provided; Acne inversa, familial, 3; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L282P (p.Leu282Pro) variant details
- p.Leu282Pro
- rs63750050
- ClinGen CA390302267
- ClinVar RCV002601742
- ClinVar RCV006437154
- Pathogenic/Likely pathogenic
- not provided; Acne inversa, familial, 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- CADD 29.20
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Acne inversa, familial, 3; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Population evidence available
- 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)