E91* (p.Glu91Ter) variant of ATP13A2 (Q9NQ11)
E91* (p.Glu91Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
E91* (p.Glu91Ter) variant details
- p.Glu91Ter
- ExAC rs778193284
- TOPMed rs778193284
- gnomAD rs778193284
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.844
- CADD 44.00
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available