W85* (p.Trp85Ter) variant of SOX10 (Transcription factor SOX-10)
W85* (p.Trp85Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W85* (p.Trp85Ter) variant details
- p.Trp85Ter
- rs2145777262
- ClinGen CA411501279
- ClinVar RCV001785008
- Ensembl rs2145777262
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available