R100P (p.Arg100Pro) variant of APP (Amyloid-beta precursor protein)
R100P (p.Arg100Pro) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R100P (p.Arg100Pro) variant details
- p.Arg100Pro
- 1000Genomes rs199741007
- ExAC rs199741007
- TOPMed rs199741007
- gnomAD rs199741007
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.64
- CADD 25.70
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available