K56* (p.Lys56Ter) variant of SOX10 (Transcription factor SOX-10)
K56* (p.Lys56Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
K56* (p.Lys56Ter) variant details
- p.Lys56Ter
- gnomAD 22-37970990-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.75
- Population evidence available
- Structural context available
- Literature evidence available