Q48R (p.Gln48Arg) variant of APP (Amyloid-beta precursor protein)
Q48R (p.Gln48Arg) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- TOPMed rs1387322785
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.81
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available