C22C (p.Cys22Cys) variant of ATP7A (Copper-transporting ATPase 1)
C22C (p.Cys22Cys) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C22C (p.Cys22Cys) variant details
- p.Cys22Cys
- gnomAD X-77975552-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 1.24
- Population evidence available
- Structural context available
- Literature evidence available