S17* (p.Ser17Ter) variant of SOX10 (Transcription factor SOX-10)
S17* (p.Ser17Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- rs1064795391
- ClinGen CA16621120
- ClinVar RCV000479482
- Ensembl rs1064795391
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available