S3S (p.Ser3Ser) variant of SQSTM1 (Sequestosome-1)
S3S (p.Ser3Ser) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- rs527309027
- gnomAD 5-179820945-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.797
- Literature evidence available