E20* (p.Glu20Ter) variant of TERT (Telomerase reverse transcriptase)
E20* (p.Glu20Ter) in TERT (Telomerase reverse transcriptase) 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 0.51 / 1. The record also includes population frequency data and structural context.
E20* (p.Glu20Ter) variant details
- p.Glu20Ter
- cosmic curated COSV10511
- Ensembl rs2126692596
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available