E19V (p.Glu19Val) variant of APP (Amyloid-beta precursor protein)
E19V (p.Glu19Val) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- TOPMed rs1280139639
- gnomAD rs1280139639
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.62
- CADD 29.80
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available