Y40* (p.Tyr40Ter) variant of ATP13A2 (Q9NQ11)
Y40* (p.Tyr40Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y40* (p.Tyr40Ter) variant details
- p.Tyr40Ter
- ExAC rs751082709
- gnomAD rs751082709
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 38.00
- PolyPhen-2 0.83
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available