S105* (p.Ser105Ter) variant of ATP7B (Copper-transporting ATPase 2)
S105* (p.Ser105Ter) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S105* (p.Ser105Ter) variant details
- p.Ser105Ter
- rs753236073
- ClinGen CA274484
- ClinVar RCV000169629
- ClinVar RCV000293037
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)