V717I (p.Val717Ile) variant of APP (Amyloid-beta precursor protein)
V717I (p.Val717Ile) 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 Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V717I (p.Val717Ile) variant details
- p.Val717Ile
- rs63750264
- ClinGen CA127791
- ClinVar RCV000019714
- ClinVar RCV000020308
- Pathogenic
- Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.78
- AlphaMissense 0.65
- MetaLR 0.93
- MetaSVM 1.06
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Cerebral amyloid angiopathy, APP-related; Alzheimer disease type)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four… (PMID 10631141)
- Cited in: Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for… (PMID 11063718)