D67A (p.Asp67Ala) variant of ATP7A (Copper-transporting ATPase 1)
D67A (p.Asp67Ala) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D67A (p.Asp67Ala) variant details
- p.Asp67Ala
- gnomAD X-77988321-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available