E126D (p.Glu126Asp) variant of ATP13A2 (Q9NQ11)
E126D (p.Glu126Asp) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E126D (p.Glu126Asp) variant details
- p.Glu126Asp
- ExAC rs765913972
- gnomAD rs765913972
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.06
- CADD 15.90
- PolyPhen-2 0.45
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 4.1e-05)
- Structural context available