C108Y (p.Cys108Tyr) variant of ATP7B (Copper-transporting ATPase 2)
C108Y (p.Cys108Tyr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in WD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
C108Y (p.Cys108Tyr) variant details
- p.Cys108Tyr
- NCI-TCGA TCGA novel
- Uncertain significance
- in WD
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.24
- ESM-1b 0.16
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.51
- SIFT 0.04
- EBI: uncertain significance (in WD)
- UniProt: Uncertain significance (in WD)
- Structural context available