D131E (p.Asp131Glu) variant of APP (Amyloid-beta precursor protein)
D131E (p.Asp131Glu) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D131E (p.Asp131Glu) variant details
- p.Asp131Glu
- TOPMed rs1338174387
- gnomAD rs1338174387
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.42
- CADD 22.80
- PolyPhen-2 0.92
- SIFT 0.92
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available