R100Q (p.Arg100Gln) variant of APP (Amyloid-beta precursor protein)
R100Q (p.Arg100Gln) in APP (Amyloid-beta precursor protein) is a missense change. 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.
R100Q (p.Arg100Gln) variant details
- p.Arg100Gln
- cosmic curated COSV61006
- 1000Genomes rs199741007
- ExAC rs199741007
- TOPMed rs199741007
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available