E693G (p.Glu693Gly) variant of APP (Amyloid-beta precursor protein)
E693G (p.Glu693Gly) 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 ABeta amyloidosis, Arctic type; Alzheimer disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
E693G (p.Glu693Gly) variant details
- p.Glu693Gly
- rs63751039
- ClinGen CA127801
- ClinVar RCV000019725
- ClinVar RCV000019726
- Pathogenic
- ABeta amyloidosis, Arctic type; Alzheimer disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.38
- MetaLR 0.93
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (ABeta amyloidosis, Arctic type; Alzheimer disease type 1)
- EBI: Pathogenic (in AD1)
- UniProt: Pathogenic (in AD1)
- 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: The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. (PMID 11528419)