D68H (p.Asp68His) variant of ATP7A (Copper-transporting ATPase 1)
D68H (p.Asp68His) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D68H (p.Asp68His) variant details
- p.Asp68His
- gnomAD X-77988323-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.81
- CADD 24.60
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available