E3* (p.Glu3Ter) variant of SOX10 (Transcription factor SOX-10)
E3* (p.Glu3Ter) 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.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- rs1932482365
- ClinGen CA411502553
- ClinVar RCV001290164
- Ensembl rs1932482365
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.817
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available