E14E (p.Glu14Glu) variant of SQSTM1 (Sequestosome-1)
E14E (p.Glu14Glu) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD 5-179820978-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 14.60
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.417
- Literature evidence available