Q59L (p.Gln59Leu) variant of SOX10 (Transcription factor SOX-10)
Q59L (p.Gln59Leu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q59L (p.Gln59Leu) variant details
- p.Gln59Leu
- TOPMed rs1273461073
- gnomAD rs1273461073
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.11
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available