E14* (p.Glu14Ter) variant of SQSTM1 (Sequestosome-1)
E14* (p.Glu14Ter) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- gnomAD rs1405208101
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.86
- CADD 41.00
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.417