R102H (p.Arg102His) variant of APP (Amyloid-beta precursor protein)
R102H (p.Arg102His) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R102H (p.Arg102His) variant details
- p.Arg102His
- rs777260127
- ClinGen CA9987699
- ClinVar RCV003509237
- ExAC rs777260127
- Likely benign
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.69
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Likely benign (Alzheimer disease)
- EBI: Likely benign
- UniProt: Likely benign
- 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)