E11K (p.Glu11Lys) variant of SOX10 (Transcription factor SOX-10)
E11K (p.Glu11Lys) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- TOPMed rs1378332307
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.58
- CADD 23.90
- PolyPhen-2 0.32
- SIFT 0.01
- Population evidence available
- Structural context available