I75I (p.Ile75Ile) variant of ATP7A (Copper-transporting ATPase 1)
I75I (p.Ile75Ile) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I75I (p.Ile75Ile) variant details
- p.Ile75Ile
- gnomAD X-77988346-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0899
- CADD 1.30
- Population evidence available
- Structural context available
- Literature evidence available