V717F (p.Val717Phe) variant of APP (Amyloid-beta precursor protein)
V717F (p.Val717Phe) 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 type 1; 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.
V717F (p.Val717Phe) variant details
- p.Val717Phe
- rs63750264
- ClinGen CA127792
- ClinVar RCV000019715
- ClinVar RCV000815476
- Pathogenic
- not provided; Alzheimer disease type 1; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.65
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; Alzheimer disease type 1; Alzheimer disease)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Structural context available
- Cited in: Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease. (PMID 10611368)
- Cited in: Brain to plasma amyloid-beta efflux: a measure of brain amyloid burden in a mouse model of Alzheimer's disease. (PMID 11910111)