L11V (p.Leu11Val) variant of SQSTM1 (Sequestosome-1)
L11V (p.Leu11Val) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, experimental measurements, and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- ExAC rs777193579
- TOPMed rs777193579
- gnomAD rs777193579
- Likely benign
- Missense
- SIFT 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.678