M170I (p.Met170Ile) variant of APP (Amyloid-beta precursor protein)
M170I (p.Met170Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
M170I (p.Met170Ile) variant details
- p.Met170Ile
- rs372642708
- ClinGen CA9987627
- ClinVar RCV002958001
- ClinVar RCV004790285
- Conflicting interpretations
- not provided; Inborn genetic diseases; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.91
- CADD 26.30
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Alzheimer disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)