Q95E (p.Gln95Glu) variant of APP (Amyloid-beta precursor protein)
Q95E (p.Gln95Glu) 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 not specified; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q95E (p.Gln95Glu) variant details
- p.Gln95Glu
- rs950592627
- ClinGen CA319562680
- ClinVar RCV000516620
- ClinVar RCV001857895
- Uncertain significance
- not specified; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.37
- CADD 18.80
- PolyPhen-2 0.26
- SIFT 0.88
- ClinVar: Uncertain significance (not specified; Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)