P48H (p.Pro48His) variant of SOX10 (Transcription factor SOX-10)
P48H (p.Pro48His) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P48H (p.Pro48His) variant details
- p.Pro48His
- gnomAD 22-37971001-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 4.50
- Population evidence available
- Structural context available
- Literature evidence available