R100W (p.Arg100Trp) variant of APP (Amyloid-beta precursor protein)
R100W (p.Arg100Trp) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R100W (p.Arg100Trp) variant details
- p.Arg100Trp
- rs200347552
- ClinGen CA9987702
- cosmic curated COSV61005
- ClinVar RCV000813633
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.73
- CADD 26.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Alzheimer disease)
- 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)