E15K (p.Glu15Lys) variant of ATP7A (Copper-transporting ATPase 1)
E15K (p.Glu15Lys) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs1557229668
- gnomAD X-77971621-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available