E32* (p.Glu32Ter) variant of SQSTM1 (Sequestosome-1)
E32* (p.Glu32Ter) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- gnomAD 5-179821030-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 37.00
- Population evidence available
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.05
- Literature evidence available