I716V (p.Ile716Val) variant of APP (Amyloid-beta precursor protein)
I716V (p.Ile716Val) 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 record also includes published literature and structural context.
I716V (p.Ile716Val) variant details
- p.Ile716Val
- rs2146237965
- ClinGen CA2573157339
- ClinVar RCV001947096
- ClinVar RCV005242139
- Pathogenic
- not provided; Alzheimer disease
- Missense
- ClinVar: Pathogenic (not provided; Alzheimer disease)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- Structural context available
- Cited in: A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). (PMID 9328472)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)