R16P (p.Arg16Pro) variant of APP (Amyloid-beta precursor protein)
R16P (p.Arg16Pro) 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 Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- TOPMed rs955517095
- gnomAD rs955517095
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.53
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available