Q5H (p.Gln5His) variant of SOX10 (Transcription factor SOX-10)
Q5H (p.Gln5His) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- TOPMed rs1256220050
- gnomAD rs1256220050
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.49
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available