K150E (p.Lys150Glu) variant of ATP13A2 (Q9NQ11)
K150E (p.Lys150Glu) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
K150E (p.Lys150Glu) variant details
- p.Lys150Glu
- gnomAD rs1457298892
- Missense
- Variant Prioritization Score for Impact Estimate 0.0496
- REVEL 0.03
- CADD 1.38
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available