E19E (p.Glu19Glu) variant of SQSTM1 (Sequestosome-1)
E19E (p.Glu19Glu) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E19E (p.Glu19Glu) variant details
- p.Glu19Glu
- rs1582002994
- gnomAD 5-179820993-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 14.80
- Most common in the Middle Eastern population (allele frequency 0.00036)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -0.183
- Literature evidence available