E15K (p.Glu15Lys) variant of XPC (Q01831)
E15K (p.Glu15Lys) in XPC (Q01831) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- TOPMed rs1340359519
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available