R16W (p.Arg16Trp) variant of APP (Amyloid-beta precursor protein)
R16W (p.Arg16Trp) 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 not provided; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs202070273
- ClinGen CA9987777
- ClinVar RCV001341603
- ClinVar RCV004746330
- Uncertain significance
- not provided; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)