E42Q (p.Glu42Gln) variant of SDHD (O14521)
E42Q (p.Glu42Gln) in SDHD (O14521) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E42Q (p.Glu42Gln) variant details
- p.Glu42Gln
- ExAC rs756995021
- TOPMed rs756995021
- gnomAD rs756995021
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available