E30* (p.Glu30Ter) variant of SQSTM1 (Sequestosome-1)
E30* (p.Glu30Ter) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- gnomAD 5-179821024-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.358
- Literature evidence available