W29* (p.Trp29Ter) variant of ATP7B (Copper-transporting ATPase 2)
W29* (p.Trp29Ter) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W29* (p.Trp29Ter) variant details
- p.Trp29Ter
- rs577406734
- ClinGen CA6989618
- ClinVar RCV001263832
- ExAC rs577406734
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)