E111Q (p.Glu111Gln) variant of XPA (P23025)
E111Q (p.Glu111Gln) in XPA (P23025) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E111Q (p.Glu111Gln) variant details
- p.Glu111Gln
- ExAC rs769255883
- TOPMed rs769255883
- gnomAD rs769255883
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available