P188L (p.Pro188Leu) variant of APP (Amyloid-beta precursor protein)
P188L (p.Pro188Leu) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease. The record also includes published literature and structural context.
P188L (p.Pro188Leu) variant details
- p.Pro188Leu
- rs2516934188
- ClinGen CA409862895
- ClinVar RCV003622162
- Uncertain significance
- Alzheimer disease
- Missense
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)