D177E (p.Asp177Glu) variant of APP (Amyloid-beta precursor protein)
D177E (p.Asp177Glu) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D177E (p.Asp177Glu) variant details
- p.Asp177Glu
- TOPMed rs1431982540
- gnomAD rs1431982540
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.91
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available