I51I (p.Ile51Ile) variant of ATP7A (Copper-transporting ATPase 1)
I51I (p.Ile51Ile) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I51I (p.Ile51Ile) variant details
- p.Ile51Ile
- rs1557231565
- gnomAD X-77988274-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 10.30
- Population evidence available
- Structural context available
- Literature evidence available