C26* (p.Cys26Ter) variant of SQSTM1 (Sequestosome-1)
C26* (p.Cys26Ter) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C26* (p.Cys26Ter) variant details
- p.Cys26Ter
- gnomAD 5-179821014-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 35.00
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.03
- Literature evidence available