I12I (p.Ile12Ile) variant of ATP7A (Copper-transporting ATPase 1)
I12I (p.Ile12Ile) in ATP7A (Copper-transporting ATPase 1) is a synonymous 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.
I12I (p.Ile12Ile) variant details
- p.Ile12Ile
- gnomAD X-77971638-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.46
- Population evidence available
- Structural context available
- Literature evidence available