Q72* (p.Gln72Ter) variant of TECRL (Q5HYJ1)
Q72* (p.Gln72Ter) in TECRL (Q5HYJ1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Q72* (p.Gln72Ter) variant details
- p.Gln72Ter
- ExAC rs748027271
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 37.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available