G36D (p.Gly36Asp) variant of SOX10 (Transcription factor SOX-10)
G36D (p.Gly36Asp) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- cosmic curated COSV61005
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.10
- Population evidence available
- Structural context available