Q104R (p.Gln104Arg) variant of APP (Amyloid-beta precursor protein)
Q104R (p.Gln104Arg) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Q104R (p.Gln104Arg) variant details
- p.Gln104Arg
- gnomAD rs1449764914
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.70
- CADD 24.10
- PolyPhen-2 0.56
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available