N164I (p.Asn164Ile) variant of APP (Amyloid-beta precursor protein)
N164I (p.Asn164Ile) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N164I (p.Asn164Ile) variant details
- p.Asn164Ile
- gnomAD rs1231783932
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.68
- CADD 23.70
- PolyPhen-2 0.61
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available