R21H (p.Arg21His) variant of SOX10 (Transcription factor SOX-10)
R21H (p.Arg21His) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- TOPMed rs1458159398
- gnomAD rs1458159398
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.16
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available