G378E (p.Gly378Glu) variant of PSEN1 (Presenilin-1)
G378E (p.Gly378Glu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 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.
G378E (p.Gly378Glu) variant details
- p.Gly378Glu
- rs63750323
- ClinGen CA390305702
- ClinVar RCV001092312
- ClinVar RCV002249680
- Pathogenic
- not provided; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (not provided; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's… (PMID 10200054)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)