D72G (p.Asp72Gly) variant of ATP7A (Copper-transporting ATPase 1)
D72G (p.Asp72Gly) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D72G (p.Asp72Gly) variant details
- p.Asp72Gly
- ExAC rs781935299
- gnomAD rs781935299
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.65
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available