E67G (p.Glu67Gly) variant of APP (Amyloid-beta precursor protein)
E67G (p.Glu67Gly) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E67G (p.Glu67Gly) variant details
- p.Glu67Gly
- TOPMed rs1351702564
- gnomAD rs1351702564
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available