R63M (p.Arg63Met) variant of ATP7B (Copper-transporting ATPase 2)
R63M (p.Arg63Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
R63M (p.Arg63Met) variant details
- p.Arg63Met
- ExAC rs776972937
- gnomAD rs776972937
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- ESM-1b 0.61
- AlphaMissense 0.12
- MetaLR 0.41
- MetaSVM -0.74
- SIFT 0.41
- Structural context available