E122* (p.Glu122Ter) variant of ATP7B (Copper-transporting ATPase 2)
E122* (p.Glu122Ter) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E122* (p.Glu122Ter) variant details
- p.Glu122Ter
- rs746662232
- ClinVar RCV004576175
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.09
- MetaLR 0.71
- MetaSVM 0.33
- PolyPhen-2 0.33
- SIFT 0.20
- MutPred 0.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)