E152K (p.Glu152Lys) variant of ATP13A2 (Q9NQ11)
E152K (p.Glu152Lys) 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.
E152K (p.Glu152Lys) variant details
- p.Glu152Lys
- TOPMed rs1173258415
- gnomAD rs1173258415
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.31
- CADD 9.74
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available