R16Q (p.Arg16Gln) variant of APP (Amyloid-beta precursor protein)
R16Q (p.Arg16Gln) 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 Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1; Alzheimer di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs955517095
- ClinGen CA319572175
- ClinVar RCV001136836
- ClinVar RCV001355941
- Uncertain significance
- Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1; Alzheimer di
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.24
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Cerebral amyloid angiopathy, APP-related; Alzheimer disease type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)