E19* (p.Glu19Ter) variant of SQSTM1 (Sequestosome-1)
E19* (p.Glu19Ter) 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, published literature, and structural context.
E19* (p.Glu19Ter) variant details
- p.Glu19Ter
- gnomAD 5-179820991-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.183
- Literature evidence available