R116H (p.Arg116His) variant of APP (Amyloid-beta precursor protein)
R116H (p.Arg116His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R116H (p.Arg116His) variant details
- p.Arg116His
- rs2061787725
- ClinGen CA409862478
- ClinVar RCV001288438
- ClinVar RCV003509666
- Uncertain significance
- Alzheimer disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.75
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Alzheimer disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)