C92S (p.Cys92Ser) variant of PSEN1 (Presenilin-1)
C92S (p.Cys92Ser) 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; Frontotemporal dementia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
C92S (p.Cys92Ser) variant details
- p.Cys92Ser
- rs63751141
- ClinGen CA224989
- ClinVar RCV000019772
- ClinVar RCV000084286
- Pathogenic
- Alzheimer disease 3; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Alzheimer disease 3; Frontotemporal dementia; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: The presenilin 1 C92S mutation increases abeta 42 production. (PMID 11027672)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)