K143E (p.Lys143Glu) variant of ATP13A2 (Q9NQ11)
K143E (p.Lys143Glu) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
K143E (p.Lys143Glu) variant details
- p.Lys143Glu
- ExAC rs772543354
- TOPMed rs772543354
- gnomAD rs772543354
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.09
- CADD 17.30
- PolyPhen-2 0.03
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available