D68D (p.Asp68Asp) variant of ATP7A (Copper-transporting ATPase 1)
D68D (p.Asp68Asp) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
D68D (p.Asp68Asp) variant details
- p.Asp68Asp
- rs1557231573
- gnomAD X-77988325-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 8.00
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available