D125N (p.Asp125Asn) variant of APP (Amyloid-beta precursor protein)
D125N (p.Asp125Asn) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D125N (p.Asp125Asn) variant details
- p.Asp125Asn
- TOPMed rs1386906450
- gnomAD rs1386906450
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available