C27C (p.Cys27Cys) variant of SQSTM1 (Sequestosome-1)
C27C (p.Cys27Cys) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27C (p.Cys27Cys) variant details
- p.Cys27Cys
- gnomAD 5-179821017-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.406
- Literature evidence available