C27* (p.Cys27Ter) variant of SQSTM1 (Sequestosome-1)
C27* (p.Cys27Ter) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27* (p.Cys27Ter) variant details
- p.Cys27Ter
- gnomAD 5-179821017-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 35.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.406
- Literature evidence available