S45* (p.Ser45Ter) variant of SOX10 (Transcription factor SOX-10)
S45* (p.Ser45Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S45* (p.Ser45Ter) variant details
- p.Ser45Ter
- gnomAD 22-37970995-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 1.11
- Population evidence available
- Structural context available
- Literature evidence available