E30S (p.Glu30Ser) variant of SQSTM1 (Sequestosome-1)
E30S (p.Glu30Ser) in SQSTM1 (Sequestosome-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E30S (p.Glu30Ser) variant details
- p.Glu30Ser
- gnomAD 5-179821019-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 22.80
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.358
- Literature evidence available