R8* (p.Arg8Ter) variant of TERT (Telomerase reverse transcriptase)
R8* (p.Arg8Ter) 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 0.82 / 1. The record also includes population frequency data and structural context.
R8* (p.Arg8Ter) variant details
- p.Arg8Ter
- Ensembl rs1579599353
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 34.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available