Q40* (p.Gln40Ter) variant of TERT (Telomerase reverse transcriptase)
Q40* (p.Gln40Ter) in TERT (Telomerase reverse transcriptase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- Ensembl rs2126691976
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available