C69S (p.Cys69Ser) variant of ATP7B (Copper-transporting ATPase 2)
C69S (p.Cys69Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
C69S (p.Cys69Ser) variant details
- p.Cys69Ser
- Ensembl rs2140111993
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- ESM-1b 1.00
- AlphaMissense 0.25
- Structural context available