E96* (p.Glu96Ter) variant of ATP13A2 (Q9NQ11)
E96* (p.Glu96Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- TOPMed rs2077514344
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 48.00
- PolyPhen-2 0.00
- Population evidence available
- Structural context available