T116I (p.Thr116Ile) variant of PSEN1 (Presenilin-1)
T116I (p.Thr116Ile) 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; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
T116I (p.Thr116Ile) variant details
- p.Thr116Ile
- rs63750730
- ClinGen CA225003
- ClinVar RCV000084296
- ClinVar RCV002514493
- Pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.54
- ClinVar: Pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease. (PMID 30200536)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)