E11D (p.Glu11Asp) variant of SOX10 (Transcription factor SOX-10)
E11D (p.Glu11Asp) 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.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- Ensembl rs1932480957
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.37
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available