N49D (p.Asn49Asp) variant of APP (Amyloid-beta precursor protein)
N49D (p.Asn49Asp) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
N49D (p.Asn49Asp) variant details
- p.Asn49Asp
- gnomAD rs2062337831
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.54
- CADD 24.50
- PolyPhen-2 0.25
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available