E96D (p.Glu96Asp) variant of ATP13A2 (Q9NQ11)
E96D (p.Glu96Asp) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E96D (p.Glu96Asp) variant details
- p.Glu96Asp
- ExAC rs756666487
- gnomAD rs756666487
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.07
- CADD 34.00
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available