H149R (p.His149Arg) variant of APP (Amyloid-beta precursor protein)
H149R (p.His149Arg) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H149R (p.His149Arg) variant details
- p.His149Arg
- rs200857049
- ClinGen CA319558397
- ClinVar RCV002662840
- TOPMed rs200857049
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.90
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.21
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)