E30Q (p.Glu30Gln) variant of SQSTM1 (Sequestosome-1)
E30Q (p.Glu30Gln) in SQSTM1 (Sequestosome-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, experimental measurements, and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- 1000Genomes rs764111892
- ExAC rs764111892
- TOPMed rs764111892
- gnomAD rs764111892
- Uncertain significance
- Missense
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SQSTM1 Sequestosome-1, UBA domain domainome 1.0: score -0.358