T119I (p.Thr119Ile) variant of PSEN1 (Presenilin-1)
T119I (p.Thr119Ile) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alzheimer disease 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T119I (p.Thr119Ile) variant details
- p.Thr119Ile
- rs1566630791
- ClinGen CA390304710
- ClinVar RCV000782176
- ClinVar RCV001196175
- Likely pathogenic
- Alzheimer disease 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.80
- CADD 24.10
- PolyPhen-2 0.77
- SIFT 0.31
- ClinVar: Likely pathogenic (Alzheimer disease 3; Frontotemporal dementia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)