K35* (p.Lys35Ter) variant of ATP7B (Copper-transporting ATPase 2)
K35* (p.Lys35Ter) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K35* (p.Lys35Ter) variant details
- p.Lys35Ter
- rs1057516516
- ClinGen CA16041683
- ClinVar RCV000412018
- gnomAD rs1057516516
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)