S45P (p.Ser45Pro) variant of SOX10 (Transcription factor SOX-10)
S45P (p.Ser45Pro) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S45P (p.Ser45Pro) variant details
- p.Ser45Pro
- gnomAD 22-37970996-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0826
- CADD 0.28
- Population evidence available
- Structural context available
- Literature evidence available