L418F (p.Leu418Phe) variant of PSEN1 (Presenilin-1)
L418F (p.Leu418Phe) 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 Alzheimer disease 3; Pick disease; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L418F (p.Leu418Phe) variant details
- p.Leu418Phe
- rs63751316
- ClinGen CA225175
- ClinVar RCV000084408
- UniProt VAR 075278
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Pick disease; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Pick disease; Frontotemporal dementia)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)