E693Q (p.Glu693Gln) variant of APP (Amyloid-beta precursor protein)
E693Q (p.Glu693Gln) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cerebral amyloid angiopathy, APP-related; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
E693Q (p.Glu693Gln) variant details
- p.Glu693Gln
- rs63750579
- ClinGen CA127790
- ClinVar RCV000019713
- ClinVar RCV001386879
- Pathogenic
- Cerebral amyloid angiopathy, APP-related; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.41
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 0.62
- SIFT 0.07
- EVE 0.63
- ClinVar: Pathogenic (Cerebral amyloid angiopathy, APP-related; Alzheimer disease)
- EBI: Pathogenic (in CAA-APP)
- UniProt: Pathogenic (in CAA-APP)
- Structural context available
- Cited in: Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in… (PMID 10821838)
- Cited in: DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type). (PMID 1679289)