I716T (p.Ile716Thr) variant of APP (Amyloid-beta precursor protein)
I716T (p.Ile716Thr) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
I716T (p.Ile716Thr) variant details
- p.Ile716Thr
- rs63750851
- ClinGen CA225511
- ClinVar RCV000084574
- ClinVar RCV003509495
- Pathogenic
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.76
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Alzheimer disease)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)