G37S (p.Gly37Ser) variant of SOX10 (Transcription factor SOX-10)
G37S (p.Gly37Ser) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G37S (p.Gly37Ser) variant details
- p.Gly37Ser
- ExAC rs759762110
- gnomAD rs759762110
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.12
- Population evidence available
- Structural context available