Q201* (p.Gln201Ter) variant of MED13L (Q71F56)
Q201* (p.Gln201Ter) in MED13L (Q71F56) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q201* (p.Gln201Ter) variant details
- p.Gln201Ter
- rs1029377279
- ClinGen CA386872160
- ClinVar RCV000689489
- Ensembl rs1029377279
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available