L282V (p.Leu282Val) variant of PSEN1 (Presenilin-1)
L282V (p.Leu282Val) in PSEN1 (Presenilin-1) is a missense change. The available record places it in the context of Early-onset autosomal dominant Alzheimer disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L282V (p.Leu282Val) variant details
- p.Leu282Val
- rs63749937
- ClinGen CA225133
- ClinVar RCV000084382
- UniProt VAR 081253
- not provided
- Early-onset autosomal dominant Alzheimer disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.94
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. (PMID 11701593)
- Cited in: A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. (PMID 15122701)