L85P (p.Leu85Pro) variant of PSEN1 (Presenilin-1)
L85P (p.Leu85Pro) 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 Frontotemporal dementia; Alzheimer disease 3; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L85P (p.Leu85Pro) variant details
- p.Leu85Pro
- rs63750599
- ClinGen CA127841
- ClinVar RCV000019783
- ClinVar RCV000084284
- Pathogenic/Likely pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (Frontotemporal dementia; Alzheimer disease 3; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. (PMID 15534188)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)