K74* (p.Lys74Ter) variant of XPC (Q01831)
K74* (p.Lys74Ter) in XPC (Q01831) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K74* (p.Lys74Ter) variant details
- p.Lys74Ter
- rs2125046000
- ClinGen CA351543161
- ClinVar RCV002037853
- Ensembl rs2125046000
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available