D79D (p.Asp79Asp) variant of ATP7A (Copper-transporting ATPase 1)
D79D (p.Asp79Asp) 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.
D79D (p.Asp79Asp) variant details
- p.Asp79Asp
- gnomAD X-77988358-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 1.71
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available