E4K (p.Glu4Lys) variant of SOX10 (Transcription factor SOX-10)
E4K (p.Glu4Lys) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- TOPMed rs1932482258
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.43
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available