G82D (p.Gly82Asp) variant of SOX10 (Transcription factor SOX-10)
G82D (p.Gly82Asp) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- gnomAD rs1221132587
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available