E36Q (p.Glu36Gln) variant of SQSTM1 (Sequestosome-1)
E36Q (p.Glu36Gln) 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, population frequency data, experimental measurements, and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- 1000Genomes rs376158712
- ESP rs376158712
- ExAC rs376158712
- TOPMed rs376158712
- Likely benign
- Missense
- SIFT 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.467