E28L (p.Glu28Leu) variant of SOX9 (Transcription factor SOX-9)
E28L (p.Glu28Leu) in SOX9 (Transcription factor SOX-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E28L (p.Glu28Leu) variant details
- p.Glu28Leu
- gnomAD 17-72121471-C-CAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available