C26C (p.Cys26Cys) variant of SQSTM1 (Sequestosome-1)
C26C (p.Cys26Cys) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C26C (p.Cys26Cys) variant details
- p.Cys26Cys
- rs2113479661
- gnomAD 5-179821014-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 13.50
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SQSTM1 Zinc finger, ZZ-type domain domainome 1.0: score -1.03
- Literature evidence available