E674Q (p.Glu674Gln) variant of APP (Amyloid-beta precursor protein)
E674Q (p.Glu674Gln) 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 Cerebral amyloid angiopathy, APP-related; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E674Q (p.Glu674Gln) variant details
- p.Glu674Gln
- rs752361848
- ClinGen CA9987094
- ClinVar RCV001864807
- ClinVar RCV005419234
- Conflicting interpretations
- Cerebral amyloid angiopathy, APP-related; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.64
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Alzheimer disease type 1)
- EBI: Likely benign
- UniProt: Likely benign
- 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)