K159* (p.Lys159Ter) variant of MED13L (Q71F56)
K159* (p.Lys159Ter) in MED13L (Q71F56) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K159* (p.Lys159Ter) variant details
- p.Lys159Ter
- rs2500281214
- ClinGen CA386926779
- ClinVar RCV002646657
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available