I716F (p.Ile716Phe) variant of APP (Amyloid-beta precursor protein)
I716F (p.Ile716Phe) 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 not provided; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
I716F (p.Ile716Phe) variant details
- p.Ile716Phe
- rs63750399
- ClinGen CA409805555
- ClinVar RCV003223103
- ClinVar RCV005101409
- Pathogenic
- not provided; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- AlphaMissense 0.22
- MetaLR 0.88
- MetaSVM 0.95
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic (not provided; 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)