N84S (p.Asn84Ser) variant of APP (Amyloid-beta precursor protein)
N84S (p.Asn84Ser) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
N84S (p.Asn84Ser) variant details
- p.Asn84Ser
- ExAC rs777179682
- TOPMed rs777179682
- gnomAD rs777179682
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.82
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Alzheimer disease)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available