R93C (p.Arg93Cys) variant of SOX10 (Transcription factor SOX-10)
R93C (p.Arg93Cys) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- gnomAD rs1015818123
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.80
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available