A17T (p.Ala17Thr) variant of APP (Amyloid-beta precursor protein)
A17T (p.Ala17Thr) in APP (Amyloid-beta precursor protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- ExAC rs762505107
- TOPMed rs762505107
- gnomAD rs762505107
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.47
- CADD 24.30
- PolyPhen-2 0.09
- SIFT 0.04
- Population evidence available
- Structural context available