V41I (p.Val41Ile) variant of ATP7A (Copper-transporting ATPase 1)
V41I (p.Val41Ile) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- gnomAD X-77974748-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.47
- Population evidence available
- Structural context available
- Literature evidence available