L392V (p.Leu392Val) variant of PSEN1 (Presenilin-1)
L392V (p.Leu392Val) 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; Pick disease; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L392V (p.Leu392Val) variant details
- p.Leu392Val
- rs63751416
- ClinGen CA225167
- ClinVar RCV000084402
- ClinVar RCV002513899
- Pathogenic
- Alzheimer disease 3; Pick disease; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Alzheimer disease 3; Pick disease; Frontotemporal dementia)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)
- Cited in: Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. (PMID 23843529)