R50* (p.Arg50Ter) variant of IFT172 (Q9UG01)
R50* (p.Arg50Ter) in IFT172 (Q9UG01) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R50* (p.Arg50Ter) variant details
- p.Arg50Ter
- rs1668686361
- ClinGen CA346403132
- ClinVar RCV001207600
- Ensembl rs1668686361
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available