C71F (p.Cys71Phe) variant of SOX10 (Transcription factor SOX-10)
C71F (p.Cys71Phe) in SOX10 (Transcription factor SOX-10) is a missense 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.
C71F (p.Cys71Phe) variant details
- p.Cys71Phe
- gnomAD 22-37970962-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0966
- CADD 2.25
- Population evidence available
- Structural context available
- Literature evidence available