Q95* (p.Gln95Ter) variant of ATP7B (Copper-transporting ATPase 2)
Q95* (p.Gln95Ter) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q95* (p.Gln95Ter) variant details
- p.Gln95Ter
- rs756929892
- ClinGen CA6989591
- ClinVar RCV001001014
- ExAC rs756929892
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)