Q7* (p.Gln7Ter) variant of ATP7B (Copper-transporting ATPase 2)
Q7* (p.Gln7Ter) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs1392407744
- ClinGen CA388047670
- ClinVar RCV004015019
- TOPMed rs1392407744
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)