E674G (p.Glu674Gly) variant of APP (Amyloid-beta precursor protein)
E674G (p.Glu674Gly) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar 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 0.67 / 1. The record also includes population frequency data and structural context.
E674G (p.Glu674Gly) variant details
- p.Glu674Gly
- Ensembl rs1555890531
- Pathogenic
- ABeta amyloidosis, Arctic type; Alzheimer disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.69
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.09
- ClinVar: Pathogenic (ABeta amyloidosis, Arctic type; Alzheimer disease type 1)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available