G175R (p.Gly175Arg) variant of APP (Amyloid-beta precursor protein)
G175R (p.Gly175Arg) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G175R (p.Gly175Arg) variant details
- p.Gly175Arg
- TOPMed rs201817335
- gnomAD rs201817335
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.88
- CADD 28.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available