G96D (p.Gly96Asp) variant of SOX10 (Transcription factor SOX-10)
G96D (p.Gly96Asp) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G96D (p.Gly96Asp) variant details
- p.Gly96Asp
- Ensembl rs2145777154
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.59
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available