E152G (p.Glu152Gly) variant of ATP13A2 (Q9NQ11)
E152G (p.Glu152Gly) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E152G (p.Glu152Gly) variant details
- p.Glu152Gly
- ExAC rs748158984
- gnomAD rs748158984
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.07
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available