W9* (p.Trp9Ter) variant of ITGB4 (Integrin beta-4)
W9* (p.Trp9Ter) in ITGB4 (Integrin beta-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W9* (p.Trp9Ter) variant details
- p.Trp9Ter
- rs2545709621
- ClinGen CA401062671
- ClinVar RCV003544088
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available