Q33* (p.Gln33Ter) variant of TECTA (Alpha-tectorin)
Q33* (p.Gln33Ter) in TECTA (Alpha-tectorin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- ExAC rs765570531
- gnomAD rs765570531
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 40.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available