E30E (p.Glu30Glu) variant of SQSTM1 (Sequestosome-1)
E30E (p.Glu30Glu) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E30E (p.Glu30Glu) variant details
- p.Glu30Glu
- gnomAD 5-179821026-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 9.98
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.358
- Literature evidence available