Y74* (p.Tyr74Ter) variant of JUP (Junction plakoglobin)
Y74* (p.Tyr74Ter) in JUP (Junction plakoglobin) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Y74* (p.Tyr74Ter) variant details
- p.Tyr74Ter
- rs2143697976
- ClinGen CA399506103
- ClinVar RCV001999850
- Ensembl rs2143697976
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)