S28S (p.Ser28Ser) variant of SQSTM1 (Sequestosome-1)
S28S (p.Ser28Ser) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs759823891
- gnomAD 5-179821020-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 12.90
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.56
- Literature evidence available