G29* (p.Gly29Ter) variant of TRDN (Triadin)
G29* (p.Gly29Ter) in TRDN (Triadin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G29* (p.Gly29Ter) variant details
- p.Gly29Ter
- ExAC rs763469367
- TOPMed rs763469367
- gnomAD rs763469367
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available