Q5* (p.Gln5Ter) variant of SOX10 (Transcription factor SOX-10)
Q5* (p.Gln5Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. Clinical records from EBI and UniProt describe it as 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.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs2145777835
- ClinGen CA2499226186
- ClinVar RCV001582453
- Ensembl rs2145777835
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.818
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available