C7* (p.Cys7Ter) variant of TERT (Telomerase reverse transcriptase)
C7* (p.Cys7Ter) in TERT (Telomerase reverse transcriptase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C7* (p.Cys7Ter) variant details
- p.Cys7Ter
- TOPMed rs1447706663
- gnomAD rs1447706663
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available