Q68* (p.Gln68Ter) variant of TECRL (Q5HYJ1)
Q68* (p.Gln68Ter) in TECRL (Q5HYJ1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q68* (p.Gln68Ter) variant details
- p.Gln68Ter
- rs377068257
- ClinGen CA2935673
- ClinVar RCV002419763
- ClinVar RCV005645390
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available