D64E (p.Asp64Glu) variant of SOX10 (Transcription factor SOX-10)
D64E (p.Asp64Glu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D64E (p.Asp64Glu) variant details
- p.Asp64Glu
- TOPMed rs1315579578
- gnomAD rs1315579578
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.43
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.95
- Population evidence available
- Structural context available