I39I (p.Ile39Ile) variant of ATP7A (Copper-transporting ATPase 1)
I39I (p.Ile39Ile) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I39I (p.Ile39Ile) variant details
- p.Ile39Ile
- gnomAD X-77971758-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 11.50
- Population evidence available
- Structural context available
- Literature evidence available