W102* (p.Trp102Ter) variant of TRDN (Triadin)
W102* (p.Trp102Ter) in TRDN (Triadin) 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 0.63 / 1. The record also includes population frequency data and structural context.
W102* (p.Trp102Ter) variant details
- p.Trp102Ter
- rs2534485518
- ClinGen CA365568836
- ClinVar RCV002444194
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available