G47S (p.Gly47Ser) variant of ATP7B (Copper-transporting ATPase 2)
G47S (p.Gly47Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- ExAC rs767212439
- gnomAD rs767212439
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available