L11L (p.Leu11Leu) variant of SQSTM1 (Sequestosome-1)
L11L (p.Leu11Leu) in SQSTM1 (Sequestosome-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs777193579
- gnomAD 5-179820967-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 15.30
- Most common in the East Asian population (allele frequency 0.00017)
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.678
- Literature evidence available