M146I (p.Met146Ile) variant of PSEN1 (Presenilin-1)
M146I (p.Met146Ile) in PSEN1 (Presenilin-1) is a missense change. The available record places it in the context of Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
M146I (p.Met146Ile) variant details
- p.Met146Ile
- rs63750391
- ClinGen CA390305025
- ClinVar RCV004525816
- Ensembl rs63750391
- not provided
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: not provided (Alzheimer disease 3)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1. (PMID 9007311)
- Cited in: A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease. (PMID 9544835)