D2D (p.Asp2Asp) variant of ATP7A (Copper-transporting ATPase 1)
D2D (p.Asp2Asp) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
D2D (p.Asp2Asp) variant details
- p.Asp2Asp
- rs951178780
- gnomAD X-77971647-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.97
- Population evidence available
- Literature evidence available