I143T (p.Ile143Thr) variant of PSEN1 (Presenilin-1)
I143T (p.Ile143Thr) 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 0.96 / 1. The record also includes published literature and structural context.
I143T (p.Ile143Thr) variant details
- p.Ile143Thr
- rs63750004
- ClinGen CA225019
- ClinVar RCV000084308
- ClinVar RCV001071503
- Pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor… (PMID 11568920)