M84V (p.Met84Val) variant of PSEN1 (Presenilin-1)
M84V (p.Met84Val) 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 0.78 / 1. The record also includes published literature and structural context.
M84V (p.Met84Val) variant details
- p.Met84Val
- rs749249788
- ClinGen CA390303217
- ClinVar RCV003783616
- ExAC rs749249788
- Pathogenic
- Alzheimer disease 3; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- AlphaMissense 0.64
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.31
- ClinVar: Pathogenic (Alzheimer disease 3; Frontotemporal dementia; Pick disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)