G38D (p.Gly38Asp) variant of SOX10 (Transcription factor SOX-10)
G38D (p.Gly38Asp) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G38D (p.Gly38Asp) variant details
- p.Gly38Asp
- gnomAD rs1322873238
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.19
- CADD 19.10
- PolyPhen-2 0.24
- SIFT 0.26
- Population evidence available
- Structural context available