E583G (p.Glu583Gly) variant of APP (Amyloid-beta precursor protein)
E583G (p.Glu583Gly) 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 Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E583G (p.Glu583Gly) variant details
- p.Glu583Gly
- rs778495527
- ClinGen CA9987208
- ClinVar RCV001894005
- ExAC rs778495527
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.38
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 0.63
- SIFT 0.02
- EVE 0.45
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)