E118* (p.Glu118Ter) variant of ATP13A2 (Q9NQ11)
E118* (p.Glu118Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E118* (p.Glu118Ter) variant details
- p.Glu118Ter
- ExAC rs756152157
- gnomAD rs756152157
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available