P46S (p.Pro46Ser) variant of SOX10 (Transcription factor SOX-10)
P46S (p.Pro46Ser) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- gnomAD rs1168500667
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available