E53Q (p.Glu53Gln) variant of POR (NADPH--cytochrome P450 reductase)
E53Q (p.Glu53Gln) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- ExAC rs782151568
- gnomAD rs782151568
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available