N96I (p.Asn96Ile) variant of APP (Amyloid-beta precursor protein)
N96I (p.Asn96Ile) 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.
N96I (p.Asn96Ile) variant details
- p.Asn96Ile
- gnomAD rs1404320222
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.91
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available