P48P (p.Pro48Pro) variant of SOX10 (Transcription factor SOX-10)
P48P (p.Pro48Pro) in SOX10 (Transcription factor SOX-10) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P48P (p.Pro48Pro) variant details
- p.Pro48Pro
- gnomAD 22-37971000-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.48
- Population evidence available
- Structural context available
- Literature evidence available